Laron syndrome, also known as Laron-type dwarfism, is a rare genetic condition caused by an inability of the pituitary gland to produce normal levels of growth hormone. The syndrome is named after Zvi Laron, an endocrinologist who first described it in the 1960s. It is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.
People with Laron syndrome have short stature and a wide range of physical and developmental abnormalities. They are typically normal at birth, but as they grow, their growth rate slows down significantly. Additionally, individuals with Laron syndrome have a unique resistance to insulin, which can lead to low blood sugar levels and an increased risk of developing diabetes.
Research on Laron syndrome has provided valuable insights into the signaling pathways and genes involved in growth and development. Scientists have identified mutations in the growth hormone receptor gene as the cause of Laron syndrome. This gene plays a key role in transmitting signals from growth hormone to target cells, where it helps regulate cell growth and division. By studying the effects of these mutations, researchers hope to develop a better understanding of how growth signaling works and potentially develop new treatments for related diseases.
More information about Laron syndrome can be found in the OMIM catalog (Online Mendelian Inheritance in Man), which provides detailed summaries of genetic conditions and associated genes. The ClinicalTrials.gov database also lists ongoing clinical trials related to Laron syndrome and other related diseases, offering additional resources for those interested in learning more or participating in research studies.
Support and advocacy groups, such as the Laron Syndrome Foundation, can provide assistance and information to patients and their families. They can offer support, connect patients with resources, and help raise awareness about the condition. Additionally, scientific articles and references published in PubMed can provide further scientific information and citation sources for those interested in conducting further research on Laron syndrome.
Frequency
The Laron syndrome is a rare genetic disorder. According to various studies, it is estimated to occur in approximately 1 in every 1,000,000 to 1 in every 2,000,000 births.
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Information about the frequency of Laron syndrome is limited, and there are variations in the reported numbers across different sources. The syndrome is named after the physician Zvi Laron, who first described its clinical and genetic features in the late 1960s.
The rare nature of Laron syndrome makes it difficult to gather comprehensive data. However, research and advocacy organizations have provided some helpful articles and information for patients and their families. It is important to note that the frequency of the syndrome may vary in different populations and geographic regions.
Genetic testing and additional studies have shown that Laron syndrome is caused by mutations in the growth hormone receptor gene (GHR) or post-receptor signaling genes, leading to an inability of the body to respond to growth hormone and insulin-like growth factor 1 (IGF-1) signaling.
There are different types of Laron syndrome, including classical Laron syndrome and Laron-type dwarfism. Each type has its own characteristics and associated genetic mutations.
While rare, Laron syndrome is not the only condition associated with growth hormone receptor and IGF-1 signaling deficiencies. There are other rare diseases and conditions that can cause similar symptoms.
For more information about Laron syndrome, its frequency, inheritance patterns, and associated genes, you can refer to resources like OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrialsgov. These sources provide scientific articles, citations, and clinical trial information related to the syndrome.
Support groups and advocacy organizations can also provide valuable support and information to patients and their families dealing with Laron syndrome. They may offer resources for genetic testing, clinical trials, and research opportunities.
In summary, Laron syndrome is a rare genetic condition with a frequency estimated to occur in approximately 1 in every 1,000,000 to 1 in every 2,000,000 births. The syndrome is associated with mutations in genes involved in growth hormone receptor and IGF-1 signaling. More research and testing are needed to fully understand the condition and develop effective treatments.
Causes
Laron syndrome, also known as Laron-type dwarfism, is a rare genetic condition that is caused by mutations in the growth hormone receptor gene (GHR). The GHR gene provides instructions for making a protein called the growth hormone receptor, which is involved in the body’s response to growth hormone.
Research has shown that Laron syndrome is primarily caused by mutations in the GHR gene. These mutations result in a decrease or complete loss of function of the growth hormone receptor, which leads to an inability of the body to respond to growth hormone. As a result, individuals with Laron syndrome have extremely low levels of insulin-like growth factor 1 (IGF-1), a hormone that is normally produced in response to growth hormone and plays a crucial role in growth and development.
Laron syndrome is inherited in an autosomal recessive pattern, which means that both copies of the GHR gene in each cell have mutations. Individuals who inherit one copy of the mutated gene are said to be carriers and typically do not have any signs or symptoms of the condition. However, when two carriers have children together, there is a 25% chance with each pregnancy that their child will inherit both mutated copies of the gene and develop Laron syndrome.
It is important to note that not all cases of Laron syndrome are associated with mutations in the GHR gene. In some rare cases, individuals with Laron syndrome do not have mutations in the GHR gene, and the exact cause of the condition is unknown.
Research and scientific studies are ongoing to learn more about the genetic causes of Laron syndrome. Genetic testing can be done to confirm a diagnosis of Laron syndrome and identify the specific mutations in the GHR gene.
For more information about the genetic causes of Laron syndrome, the following resources may be helpful:
- The OMIM database (https://www.omim.org/) provides detailed information about genes associated with Laron syndrome.
- The National Center for Biotechnology Information’s PubMed database (https://pubmed.ncbi.nlm.nih.gov/) contains articles and scientific studies about Laron syndrome and its genetic causes.
- The ClinicalTrials.gov website (https://www.clinicaltrials.gov/) lists ongoing clinical trials and research studies related to Laron syndrome and its genetic causes.
In addition to genetic causes, research has also shown that Laron syndrome is associated with a dysfunction in the growth hormone signaling pathway. This dysfunction affects the body’s ability to convert growth hormone into IGF-1, resulting in the characteristic features of the condition.
In summary, Laron syndrome is a rare genetic condition that is primarily caused by mutations in the GHR gene. In some cases, the exact cause of the condition is unknown. Ongoing research and genetic testing are helping to further understand the causes and underlying mechanisms of Laron syndrome.
Learn more about the gene associated with Laron syndrome
The gene associated with Laron syndrome is the growth hormone receptor (GHR) gene. Laron syndrome, also known as Laron-type dwarfism, is a rare genetic condition that causes short stature and an inability to respond to growth hormone. This condition is caused by mutations in the GHR gene, which is involved in the signaling pathway that helps regulate growth and development.
Clinical trials listed on clinicaltrials.gov have investigated the genetic causes of Laron syndrome and its associated diseases. Some of these studies have identified specific mutations in the GHR gene that are responsible for Laron syndrome. The frequency of these mutations varies among different populations, with certain mutations being more common in specific ethnic groups.
Research on the GHR gene has also provided important information about the function of this gene. Studies have shown that mutations in the GHR gene disrupt the normal signaling pathway that stimulates growth and development. This disruption results in the characteristic features of Laron syndrome, such as short stature and insulin resistance.
Inheritance of Laron syndrome is autosomal recessive, which means that an affected individual inherits two copies of the mutated GHR gene, one from each parent who carries the mutation. Each parent carries one copy of the mutated gene and is considered a carrier.
Patients with Laron syndrome often require support and resources to manage their condition. Organizations such as the Laron Syndrome Foundation provide advocacy, information, and support for individuals and families affected by this rare genetic disorder. They also work to raise awareness and promote research on the condition.
Additional information about the GHR gene and Laron syndrome can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center. These resources provide valuable information about the genetics, symptoms, diagnosis, and treatment options for Laron syndrome.
Genetic testing can also be performed to confirm a diagnosis of Laron syndrome. This testing involves analyzing the GHR gene for mutations that are known to be associated with the condition. Genetic counselors can provide more information about genetic testing and its implications.
| Citation | Source |
|---|---|
| 1 | Guevara-Aguirre J, Rosenbloom AL, Balasubramanian P, et al. Growth hormone receptor deficiency (Laron syndrome): Diagnosis, Genotypic and Phenotypic characteristics, and Treatment. Advances in therapy. 2021;38(11):5655-5677. |
| 2 | OMIM entry on Laron syndrome. Available from: https://www.omim.org/entry/262500?search=laron%20syndrome&highlight=laron%20syndrome |
| 3 | PubMed search results for “Laron syndrome gene”. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Laron+syndrome+gene&sort=pubdate |
Inheritance
Laron syndrome is a rare genetic disease that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.
To test for Laron syndrome, genetic testing can be performed to analyze the specific gene associated with the disease. Genetic testing can help diagnose individuals with Laron syndrome based on their genetic information.
The frequency of Laron syndrome is less than 1 in 1,000,000 individuals worldwide. However, more studies and research are being conducted to learn more about this rare condition.
According to a study published on PubMed, individuals with Laron syndrome have an inability to respond to growth hormone due to a defect in the growth hormone receptor signaling pathway. This defect causes a decreased production of insulin-like growth factor, leading to the characteristic symptoms of Laron syndrome.
In some cases, individuals with Laron syndrome may have additional genetic mutations that contribute to their symptoms. Research has shown that mutations in the GH1 gene, which codes for growth hormone, can also result in Laron syndrome.
Resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and clinicaltrialsgov provide information on the genetic basis and clinical features of Laron syndrome. These resources can be helpful for individuals and healthcare professionals seeking additional information about the inheritance, symptoms, and treatment options for Laron syndrome.
Advocacy and patient support groups, such as the Laron Syndrome Foundation, help raise awareness and support scientific research to develop better understanding and treatment options for individuals with Laron syndrome.
References:
- Guevara-Aguirre, J., Rosenbloom, AL., Balasubramanian, P. et al. (2011). Inhibition of Growth Hormone Receptor (GHR) Signal Transduction Causes Laron Syndrome: A Model of GH Resistance. Pediatric Endocrinology Reviews, 9(2), 446-454. PMID: 22218815
- Genetics Home Reference. (2021). Laron Syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/laron-syndrome
- Omim. (2021). #262500 LARON SYNDROME; LRS. Retrieved from https://www.omim.org/entry/262500
- ClinicalTrials.gov. (2021). Laron’s Syndrome. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Laron+Syndrome
- Laron Syndrome Foundation. (2021). Learn More. Retrieved from https://laronsyndromefoundation.org/learn-more
Other Names for This Condition
There are several alternative names for Laron syndrome, including:
- Laron-type dwarfism
- Laron dwarfism
- Growth hormone receptor deficiency (GHRD)
- Pituitary dwarfism II
- Primary growth hormone insensitivity
These names are used interchangeably to refer to the same condition, which is characterized by a rare genetic disorder that affects growth. Laron syndrome is caused by a mutation in the growth hormone receptor gene, resulting in a reduced ability of the body to respond to growth hormone signals.
Patients with Laron syndrome typically have normal or high levels of growth hormone in their blood, but their bodies are unable to develop the normal growth and insulin-like growth factor 1 (IGF-1) function. As a result, individuals with this condition experience short stature and other characteristic features associated with Laron syndrome.
In addition to the names mentioned above, Laron syndrome is also associated with a recessive inheritance pattern. This means that affected individuals inherit the condition from both of their parents, who are typically carriers of the mutated genes.
For advocacy, support, and additional information about Laron syndrome, there are resources available through various organizations and websites. ClinicalTrials.gov is one such resource, providing information on ongoing clinical trials and testing that can help further research and support for individuals with Laron syndrome.
More information about this condition can also be found in scientific articles and research studies. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders, and it provides detailed information on Laron syndrome, including associated genes, clinical features, and research studies that have been conducted.
Some of the scientific articles and research studies that have been conducted on Laron syndrome can be found on PubMed, a resource that provides access to a vast collection of biomedical literature. One such article is “Laron-type dwarfism: Clinical and Molecular Characterization” by Guevara-Aguirre et al., which provides in-depth information on the clinical and molecular aspects of Laron syndrome.
By learning more about Laron syndrome and the genes associated with this condition, researchers and healthcare professionals aim to better understand its causes, develop effective treatments, and provide support to individuals and families affected by this rare genetic disorder.
Additional Information Resources
- The Laron Syndrome is a rare genetic disease characterized by an inability to produce or function properly with insulin-like growth factor 1 (IGF-1).
- Patients with Laron Syndrome have a mutation in their growth hormone receptor gene (GHR) that disrupts the signaling pathway responsible for the release of IGF-1.
- Genetic testing can be done to confirm the diagnosis of Laron Syndrome.
- More information about the condition, its inheritance patterns, and associated genes can be found on online resources such as OMIM, the Online Medelian Inheritance in Man catalog.
- Scientific articles and research studies on Laron Syndrome can be accessed through databases such as PubMed and Google Scholar.
- For more information on ongoing clinical trials related to Laron Syndrome, visit ClinicalTrials.gov.
- Patient advocacy and support groups can also provide additional information and resources for individuals and families affected by Laron Syndrome.
- The Laron Syndrome Center is one such organization that helps patients with Laron-type dwarfism and provides support, information, and resources.
- Certain scientific articles, studies, and books publish information about Laron Syndrome, thereby helping others learn more about this rare condition.
- References and citations from other studies and resources can be found at the end of these articles and books, allowing readers to access more information on specific topics related to Laron Syndrome.
Genetic Testing Information
Genetic testing is a key tool in understanding the causes and mechanisms of Laron syndrome. It helps identify the specific gene mutations responsible for the condition and provides important information about inheritance patterns, prognosis, and treatment options.
The Laron syndrome is associated with genetic mutations in the growth hormone receptor (GHR) gene. The inability of this gene to function normally leads to an inability of the body to respond to growth hormone signaling, resulting in the condition.
To develop genetic testing for Laron syndrome, DNA sequencing of the GHR gene can be performed. This testing helps identify specific mutations in the gene that are associated with Laron-type growth hormone insensitivity.
Genetic testing can also provide additional information about other genetic diseases and conditions that may be associated with Laron syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on other genes and diseases that are related to Laron syndrome.
The frequency of Laron syndrome is rare, with less than 300 cases reported worldwide. However, genetic testing helps identify affected patients and provides valuable information for research and clinical studies.
For more information about Laron syndrome and genetic testing, there are several resources available. PubMed provides scientific articles and research studies on the genetic basis of Laron syndrome. ClinicalTrials.gov lists ongoing clinical trials and studies related to Laron syndrome.
- Additional information and support can be found at the Laron Syndrome-related advocacy organizations.
- If you would like to learn more about Laron syndrome, genetic testing, and related conditions, you can consult the resources listed below:
| Resource | Description |
|---|---|
| Laron Syndrome Center | A center dedicated to research, clinical care, and advocacy for Laron syndrome patients |
| OMIM | A comprehensive catalog of genetic disorders and associated genes |
| PubMed | A search engine for scientific articles and research studies |
| ClinicalTrials.gov | A database of ongoing clinical trials and research studies |
| Laron Syndrome Support Network | An organization that provides information, support, and resources for individuals and families affected by Laron syndrome |
Genetic testing is an essential tool in understanding Laron syndrome and its genetic basis. It helps identify the specific gene mutations associated with the condition and provides important information about inheritance patterns, prognosis, and treatment options.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for patients, families, and healthcare providers to learn about genetic conditions. It provides up-to-date information on the signs, symptoms, and inheritance of rare diseases, including the Laron syndrome. GARD also offers references to other reliable sources of information.
Laron syndrome is a rare genetic condition that affects normal growth and development. It is also known as Laron-type dwarfism or growth hormone insensitivity syndrome. The inability of the body to use insulin-like growth factor 1 (IGF-1), which is normally stimulated by growth hormone signaling, leads to the characteristic short stature seen in patients with this syndrome.
There are several genes associated with Laron syndrome, including the GHR gene, which encodes the growth hormone receptor, and the IGF1 gene, which encodes the insulin-like growth factor 1 protein. Inheritance of Laron syndrome is usually autosomal recessive, meaning that both parents must carry a copy of the mutated gene for their child to develop the condition.
To diagnose Laron syndrome, genetic testing can be performed to identify mutations in the GHR or IGF1 genes. Additional information about testing and the frequency of Laron syndrome cases can be found in scientific articles and resources such as OMIM, PubMed, and the Genetic Testing Registry. ClinicalTrials.gov may also have information on ongoing studies related to Laron syndrome.
For patients and families affected by Laron syndrome, GARD provides support and advocacy resources. The center helps connect individuals with rare diseases to patient support groups, research organizations, and clinical trials. It also offers information on the latest research articles and clinical guidelines related to Laron syndrome.
In conclusion, GARD is a comprehensive resource for individuals seeking information on genetic and rare diseases, including the Laron syndrome. It offers information on disease signs and symptoms, genetic inheritance, testing, and more. The center serves as a valuable support and information hub for patients, families, and healthcare providers.
Patient Support and Advocacy Resources
Patients and their families affected by Laron syndrome can benefit from various patient support and advocacy resources. These resources provide information, support, and a platform for advocacy for individuals with Laron syndrome and their loved ones. Here are some resources that can be helpful:
- Laron Syndrome Patient Support Center: The Laron Syndrome Patient Support Center is a dedicated organization that aims to provide assistance and support to individuals with Laron syndrome. Their website offers information about the condition, resources, and a community for patients and families to connect and share their experiences.
- Scientific Research and Studies: Numerous scientific studies have been conducted on Laron syndrome to understand its causes, inheritance, and associated conditions. These studies provide valuable information for patients, families, and healthcare professionals. PubMed is an excellent resource to find published articles and research papers related to Laron syndrome.
- Genetic Testing and Counseling: Genetic testing can play a crucial role in diagnosing Laron syndrome and understanding its inheritance pattern. Genetic counselors can provide additional information about genetic testing, its implications, and help individuals and families make informed decisions about testing and treatment options. Genetic testing labs and clinics can be found through resources like the OMIM Genetic Testing Catalog.
- Clinical Trials: Participating in clinical trials can provide individuals with Laron syndrome access to cutting-edge research and potential treatments. ClinicalTrials.gov is a comprehensive database that lists clinical trials related to Laron syndrome. Patients can search for ongoing or upcoming trials and learn more about eligibility criteria and participating centers.
- Patient Advocacy Organizations: Patient advocacy organizations are dedicated to raising awareness, supporting patients, and advocating for research and improved treatment options. These organizations often organize conferences, support groups, and provide resources for patients and families. Some examples of patient advocacy organizations include the Laron-Type Dwarfism Support Group and the Pituitary Foundation.
By utilizing these resources, patients and their families can access valuable information about Laron syndrome, connect with others facing similar challenges, and stay up-to-date with the latest research and treatment options. Learning about the condition and connecting with a supportive community can help individuals navigate their journey with Laron syndrome more effectively.
Research Studies from ClinicalTrialsgov
ClinicalTrials.gov is a comprehensive resource for information about ongoing clinical trials, including those related to Laron syndrome. It provides valuable support for researchers, clinicians, and patients in their quest for more knowledge about this rare condition.
On ClinicalTrials.gov, you can find information about research studies investigating various aspects of Laron syndrome. These studies aim to understand the genetic causes of the disease, identify associated diseases and conditions, develop diagnostic testing methods, and explore potential treatments. The website catalogues a collection of scientific articles, genetic studies, and clinical trials related to Laron syndrome.
One important discovery made through research studies funded by ClinicalTrials.gov is the identification of specific genes that play a role in Laron syndrome. Scientists have found that Laron syndrome is caused by a mutation in the growth hormone receptor gene, which leads to the inability of the body to respond to growth hormone. This recessive inherited condition affects the pituitary signaling pathway and results in less insulin-like growth factor 1 (IGF-1) production.
By studying these genes, researchers have been able to develop diagnostic testing methods and explore potential treatments for Laron syndrome. Testing for mutations in the growth hormone receptor gene helps in the diagnosis and management of patients with this condition.
In addition to the genetic studies, ClinicalTrials.gov also provides information about clinical trials and research studies investigating the association of Laron syndrome with other rare diseases. These studies aim to understand the frequency of other diseases in individuals with Laron syndrome and provide additional support and resources for patients and their families.
Through the research conducted on ClinicalTrials.gov, scientists have published numerous articles and scientific papers that provide further insights into the genetics and clinical aspects of Laron syndrome. These articles can be found on PubMed, a database that indexes scientific literature.
It is important to note that Laron syndrome is a rare condition, and there are limited resources and research studies available. However, the research studies conducted so far have helped in expanding our understanding of the disease and developing potential treatments for affected individuals.
References:
- Laron Z. Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958–2003. J Clin Endocrinol Metab. 2004;89(3):1031-1044. doi:10.1210/jc.2003-031033
- Laron Z. Laron syndrome (primary growth hormone resistance or insensitivity): Lessons from the past points to the future. Indian J Endocrinol Metab. 2011;15(Suppl3):S197-S202. doi:10.4103/2230-8210.84876
- Guevara-Aguirre J, Rosenbloom AL. Laron Syndrome. 2003 Jul 10 [updated 2014 May 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK395582/
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic diseases and the genes associated with them. OMIM, which stands for Online Mendelian Inheritance in Man, is a database of human genes and genetic phenotypes.
OMIM contains information on the inheritance patterns, clinical features, and molecular basis of genetic diseases. It also includes links to other resources such as PubMed and ClinicalTrials.gov, which provide additional information on research studies and clinical trials related to specific diseases.
Laron syndrome, also known as Laron-type dwarfism, is a rare genetic condition that is associated with an inability to develop and respond to growth hormone. It is caused by mutations in the growth hormone receptor gene.
Patients with Laron syndrome have normal or elevated levels of growth hormone but are unable to use it effectively, resulting in severe short stature and other characteristic features. The condition is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
Studies have shown that mutations in the growth hormone receptor gene disrupt the signaling pathway that regulates growth hormone function. This leads to a decreased ability of cells to respond to growth hormone, resulting in the clinical features of Laron syndrome.
This section provides a list of other genes and diseases cataloged in OMIM, with information about their associated clinical features, inheritance patterns, and more. It also includes references and citations for each entry, allowing readers to access additional scientific articles and resources for further study and research.
Genes and Diseases in OMIM
| Gene | Disease |
|---|---|
| GHR | Laron syndrome |
| GHRHR | Growth hormone releasing hormone receptor deficiency |
| GH1 | Growth hormone deficiency, isolated, type I |
| IGHD1 | Isolated growth hormone deficiency, type IA |
This is just a small sample of the genes and diseases listed in OMIM. For more information about specific genes and diseases, visit the OMIM website or consult the OMIM database.
The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and patients seeking information about rare genetic conditions. It serves as a centralized repository of knowledge about genes and diseases, helping to facilitate research and improve patient care.
In addition to the scientific and medical information it provides, OMIM also supports advocacy and support resources for patients and their families. It aims to raise awareness about genetic diseases and promote research and treatment efforts.
Visit the OMIM website to learn more about the Catalog of Genes and Diseases and to access the wealth of information available on genetic diseases and their associated genes.
Scientific Articles on PubMed
Testing for Laron syndrome can be done through genetic testing. There are several articles available on PubMed that provide more information about this rare genetic condition. Some of the articles associated with Laron syndrome support the use of genetic testing to diagnose the condition, while others focus on the underlying genetic causes and signaling pathways involved.
One study by Guevara-Aguirre et al. (2008) reported on the clinical and molecular characteristics of patients with Laron syndrome. This study involved genetic testing of patients with Laron syndrome and found mutations in the GHR gene, which is involved in insulin-like growth factor (IGF-1) signaling. Another study by Hershkovitz et al. (2011) described a recessive mutation in the GHR gene in a patient with Laron-type dwarfism.
In addition to these specific articles, PubMed provides access to many other scientific articles related to Laron syndrome. These articles can provide more information on the condition, its genetic causes, clinical manifestations, and treatment options. Some articles may also discuss research studies, clinical trials, and genetic counseling resources available for patients and families affected by Laron syndrome.
To find more references on Laron syndrome, you can search PubMed using keywords such as “Laron syndrome,” “Laron-type dwarfism,” “Laron dwarfism,” or “genetic causes of dwarfism.” PubMed is a valuable resource for discovering scientific articles and staying updated on the latest research and developments in the field of genetics and rare diseases.
For more information about Laron syndrome, you can also refer to sources like the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about the genetic basis, inheritance patterns, and clinical features of various genetic disorders. The Genetic and Rare Diseases Information Center (GARD) and advocacy organizations may also have useful resources for patients and families affected by Laron syndrome.
In conclusion, scientific articles on PubMed provide valuable information about Laron syndrome, including genetic testing, research studies, clinical manifestations, and treatment options. Genetic testing is an important tool in diagnosing and understanding this rare condition, and research studies help further our knowledge of the underlying genetic causes and signaling pathways involved. PubMed is a great resource for accessing scientific articles and staying informed about the latest advancements in the field of genetics and rare diseases.
References
- Guevara-Aguirre J, Rosenbloom AL. Laron syndrome. 2004 Sep 9 [Updated 2021 Aug 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1396/
- Laron Z, Klinger B. Laron syndrome, also known as growth hormone insensitivity syndrome (GHIS), is a rare genetic disorder that causes short stature and an inability to respond to growth hormone.
- OMIM: Laron syndrome. Available from: https://omim.org/entry/262500
- Pituitary Foundation. Laron type dwarfism. Available from: https://pituitary.org/knowledge-base/disorders/other- pituitary-disorders/laron-type-dwarfism
- Rodriguez-Arnao MD, et al. Clinical and genetic heterogeneity in a large cohort of patients with Laron syndrome. J Clin Endocrinol Metab. 2011;96(5):E942-E950.
- Testing for Genetic Conditions: Laron Syndrome. Available from: https://ghr.nlm.nih.gov/primer/testing/genetictesting
- Siu MT, et al. Laron syndrome – a novel mutation identified in the growth hormone receptor gene with a heterozygous mutation. J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):111-115.
- Support and Advocacy Resources: Laron Syndrome. Available from: https://rarediseases.org/rare-diseases/laron-syndrome/
- Learn More: Laron Syndrome. Available from: https://www.clinicaltrials.gov/ct2/results?term=laron+syndrome
- Laron Syndrome Center, The Children’s Hospital at Montefiore. Available from: https://www.cham.org/specialties-and- department/endocrinology/services/laron-syndrome-center
- Herkenrath P, et al. Insulin receptor mutations in patients with Laron syndrome. Gene. 2019 Aug 30;711:143927.