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Klippel-Trenaunay syndrome is a rare condition that affects the development of blood vessels, soft tissues, and bones. It is characterized by the abnormal overgrowth of these tissues in one area of the body. The exact cause of Klippel-Trenaunay syndrome is not known, but researchers believe that it is caused by changes in certain genes.

There are several genes that have been found to be associated with Klippel-Trenaunay syndrome, including the PIK3CA gene. Mutations in this gene can cause an overgrowth of cells and tissues in affected individuals. Genetic testing can be done to confirm a diagnosis of Klippel-Trenaunay syndrome and identify the specific gene mutations.

Klippel-Trenaunay syndrome can affect any part of the body, but it is most commonly seen in the lower limbs. Symptoms of the condition may include large birthmarks, abnormal growth of bones and soft tissues, varicose veins, and increased risk of blood clots. Treatment for Klippel-Trenaunay syndrome is focused on managing the symptoms and may include medications, compression therapy, and surgery.

For more information about Klippel-Trenaunay syndrome, you can visit websites such as PubMed, OMIM, or the Klippel-Trenaunay Support Resources Center. These resources provide additional references, articles, and studies on this rare genetic condition. ClinicalTrials.gov is also a valuable resource for information about ongoing research and clinical trials on Klippel-Trenaunay syndrome.

Frequency

The frequency of PIK3CA-related overgrowth syndromes, including Klippel-Trenaunay syndrome (KTS), is currently unknown.

PIK3CA-related overgrowth syndromes are caused by mutations in the PIK3CA gene, which is involved in the PI3K/AKT signaling pathway. These mutations can affect different tissues and cell types, leading to various clinical manifestations.

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According to a study published on OMIM, mutations in the PIK3CA gene have been found in a small percentage of patients with KTS.

Additional studies and research, including clinical trials listed on ClinicalTrials.gov, are needed to better understand the frequency and genetic causes of KTS. These studies can help identify potential therapeutic targets and develop targeted treatment options for patients with KTS.

Currently, there are no known inheritance patterns for KTS, suggesting that most cases occur sporadically. However, rare familial cases have been reported, indicating a possible genetic component.

Patients with KTS may experience overgrowth of bones, tissues, and blood vessels in affected areas. This can result in symptoms such as limb hypertrophy, vascular malformations, and other associated complications.

For more information about KTS, genetic testing, and resources for patients, families, and advocacy groups, refer to the references and resources listed below:

  • Gloviczki P. Klippel-Trenaunay syndrome: current concepts and future perspectives. Lymphat Res Biol. 2011;9(3):129-134. PMID: 22044387
  • ClinicalTrials.gov – Klippel-Trenaunay syndrome
  • OMIM entry on Klippel-Trenaunay syndrome
  • Klippel-Trenaunay Syndrome – Genetic and Rare Diseases Information Center

In conclusion, the frequency of Klippel-Trenaunay syndrome is currently unknown, but it is considered a rare condition. The condition is associated with mutations in the PIK3CA gene, which affect the PI3K/AKT signaling pathway. Further research and studies are needed to better understand the genetic causes, clinical manifestations, and potential treatment options for patients with KTS.

Causes

The exact cause of Klippel-Trenaunay syndrome (KTS) is not yet fully understood, but it is believed to be a combination of genetic and environmental factors.

Research studies have shown that KTS is often associated with genetic mutations that affect the development of blood vessels and tissues in the affected area. These mutations are most commonly found in the PIK3CA gene, which codes for a protein called PI3K. PI3K plays a role in cell growth and proliferation.

It is thought that these genetic mutations result in an abnormal overgrowth of blood vessels, bones, and other tissues in the affected area. This overgrowth can cause the characteristic symptoms of KTS, such as the presence of large birthmarks, abnormal growth of the affected limb, and venous malformations.

In some cases, KTS may be inherited from a parent who carries the genetic mutation. However, in many cases, the genetic mutation occurs spontaneously in the affected individual.

Additional genes and factors are also being studied for their potential role in causing KTS. Ongoing research and genetic testing are helping to uncover more about the genetic basis of this rare condition.

For more information about the genetic causes of Klippel-Trenaunay syndrome and ongoing research studies, resources such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov can provide additional references and support.

Learn more about the gene associated with Klippel-Trenaunay syndrome

Klippel-Trenaunay syndrome is a rare genetic condition that affects the development of blood vessels, soft tissues, and bones. While the exact cause of Klippel-Trenaunay syndrome is unknown, recent research has identified a specific gene associated with the condition: PIK3CA.

The PIK3CA gene is responsible for encoding a protein called PI3K. This protein plays a crucial role in regulating cell growth and proliferation. Mutations in the PIK3CA gene can lead to overactivation of the PI3K protein, resulting in abnormal tissue and vessel growth seen in Klippel-Trenaunay syndrome.

Scientific articles and research studies have shown that PIK3CA-related mutations are found in a significant proportion of patients with Klippel-Trenaunay syndrome. The frequency of these mutations can vary depending on the specific patient population and the affected tissues.

Testing for PIK3CA mutations can be done through genetic testing. The Center for Human Genetics offers genetic testing services specifically for Klippel-Trenaunay syndrome, including testing for mutations in the PIK3CA gene.

Additional resources for information about Klippel-Trenaunay syndrome and associated genes can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide access to scientific literature, clinical trials, and other publications related to Klippel-Trenaunay syndrome and the genetic causes of the condition.

See also  ATP1A1 gene

Advocacy organizations like the Klippel-Trenaunay Syndrome Support Center can also provide information and support for individuals and families affected by the syndrome.

It’s important to note that while mutations in the PIK3CA gene are a known cause of Klippel-Trenaunay syndrome, there may be other as-yet-unknown genetic causes of the condition. Ongoing research and scientific studies aim to further understand the genetic basis of Klippel-Trenaunay syndrome and identify additional genes that may be involved.

In conclusion, the PIK3CA gene is associated with Klippel-Trenaunay syndrome and mutations in this gene can lead to the overgrowth of tissues and vessels seen in the condition. Genetic testing can be used to identify these mutations, and resources such as OMIM and PubMed provide further information and research studies on Klippel-Trenaunay syndrome and associated genes.

Inheritance

Klippel-Trenaunay syndrome (KTS) does not have a clear pattern of inheritance. While the exact causes of KTS are not known, it is believed to be caused by genetic mutations in certain genes. These genetic mutations can occur spontaneously or be inherited from a parent who has the syndrome.

Currently, the most well-known gene associated with KTS is called the PIK3CA gene. This gene is responsible for controlling cell proliferation and growth. Mutations in the PIK3CA gene can lead to overgrowth of tissues and blood vessels, which are characteristic features of KTS.

Genetic testing can be done to identify mutations in the PIK3CA gene and other genes that may be associated with KTS. However, it is important to note that genetic testing may not always yield a positive result, as some individuals with KTS may not have mutations in the known genes.

Because KTS is a rare and complex genetic condition, it is recommended that individuals with KTS and their families seek genetic counseling and support. Genetic counselors can provide information about the inheritance of KTS, available genetic testing options, and resources for support.

Research on KTS and its genetic causes is ongoing. Clinical trials and studies are being conducted to learn more about the condition and potential treatment options. Information about ongoing clinical trials can be found on websites like clinicaltrials.gov.

For additional resources and support about KTS, patients and their families can turn to organizations such as the Klippel-Trenaunay Syndrome Advocacy and Support Center (KTSASC). The KTSASC provides information, support, and advocacy for individuals affected by KTS and their families.

References:

  1. Gloviczki, P. (2019). Klippel-Trenaunay syndrome. PubMed. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/32886891.
  2. Klippel-Trenaunay syndrome. Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/8676/klippel-trenaunay-syndrome.
  3. Pik3ca-related overgrowth spectrum. OMIM. Retrieved from https://omim.org/entry/602501.

Other Names for This Condition

Klippel-Trenaunay Syndrome is known by several other names, including:

  • KTS
  • Klippel-Trenaunay-Weber Syndrome
  • Klippel-Trenaunay-Weber Syndrome-II
  • Klippel-Trenaunay Syndrome 1
  • Klippel-Trenaunay Syndrome, Autosomal Dominant
  • Klippel-Trenaunay-Weber Syndrome, Type 2
  • K-T Syndrome
  • Angioosteohypertrophy Syndrome

The frequency of Klippel-Trenaunay Syndrome in the general population is unknown. It is a rare condition that affects blood vessels, soft tissues, and bones in a localized area. The exact cause of this condition is currently unknown, although it is thought to have a genetic basis. It has been associated with mutations in the PIK3CA gene and other related genes.

Additional information about Klippel-Trenaunay Syndrome can be found in scientific articles and research studies available on PubMed, OMIM, and other genetic research resources. ClinicalTrials.gov may also have information about ongoing research studies and clinical trials for this condition.

Patient support and advocacy organizations such as the Klippel-Trenaunay Syndrome Support Center can provide further resources and information about this condition.

References and Additional Resources:
Citation Source
Gloviczki P. Klippel-Trenaunay Syndrome. GeneReviews. [Internet]. 2019 Aug 29.
OMIM Entry – #149000 – Klippel-Trenaunay Syndrome. Online Mendelian Inheritance in Man.
Learn About Klippel-Trenaunay Syndrome. Klippel-Trenaunay Syndrome Support Center.
Klippel-Trenaunay Syndrome. NORD (National Organization for Rare Disorders).

Additional Information Resources

Below is a list of additional resources that provide more information about Klippel-Trenaunay syndrome:

  • Pubmed: A comprehensive database for scientific research articles. Searching for “Klippel-Trenaunay syndrome” will yield numerous articles on the topic.
  • -Klippel-Trenaunay Syndrome: A catalog of information on Klippel-Trenaunay syndrome, including causes, clinical features, and treatment options.
  • ClinicalTrials.gov: A database of clinical trials conducted around the world. This resource provides information on ongoing studies related to Klippel-Trenaunay syndrome.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of human genes and genetic disorders. Detailed information about Klippel-Trenaunay syndrome can be found here.
  • Gloviczki Center for Lymphedema Research and Treatment: A research center focused on lymphedema and related conditions, including Klippel-Trenaunay syndrome. They provide valuable information, support, and resources for patients and healthcare professionals.
  • PIK3CA-Related Overgrowth: Information about Klippel-Trenaunay syndrome and other related conditions caused by mutations in the PIK3CA gene.
  • Klippel-Trenaunay Syndrome – National Organization for Rare Disorders (NORD): NORD provides information, advocacy, and support for individuals with rare diseases and their families. Their website has resources specific to Klippel-Trenaunay syndrome.
  • Genetic Testing: Genetic testing can confirm a diagnosis of Klippel-Trenaunay syndrome and identify the specific gene mutation causing the condition. This resource explains the process of genetic testing and the associated benefits.
  • Scientific Articles and Studies: There are numerous scientific articles and studies available that provide in-depth information about Klippel-Trenaunay syndrome. Searching in scientific databases using keywords like “Klippel-Trenaunay syndrome” will yield relevant articles.
  • References and Citations: At the end of scientific articles and studies, you can find a list of references and citations. These can lead you to more resources and information about Klippel-Trenaunay syndrome.

By using these additional information resources, you can learn more about the causes, clinical features, and treatment options for Klippel-Trenaunay syndrome.

Genetic Testing Information

Klippel-Trenaunay syndrome is a rare genetic condition caused by mutations in various genes. Genetic testing can provide valuable information about the specific genes that may be involved in causing this condition.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides information about the frequency and inheritance patterns of different genes associated with Klippel-Trenaunay syndrome.

Several studies have identified the PIK3CA gene as a primary cause of Klippel-Trenaunay syndrome. Mutations in this gene can affect the growth and proliferation of blood vessels, leading to the characteristic symptoms of the condition.

See also  Thrombocytopenia-absent radius syndrome

Genetic testing can help confirm the diagnosis of Klippel-Trenaunay syndrome and provide information about the specific gene mutations present in an affected individual. This information can be useful for patient management and counseling.

For more information about genetic testing for Klippel-Trenaunay syndrome, you can visit the following resources:

  • OMIM: A comprehensive catalog of genes and genetic disorders. You can search for Klippel-Trenaunay syndrome and learn about the associated genes.
  • ClinicalTrials.gov: A database of clinical trials. You can find ongoing studies related to genetic testing for Klippel-Trenaunay syndrome.
  • PubMed: A database of scientific articles. You can search for research articles about the genetic causes of Klippel-Trenaunay syndrome.

Genetic testing can provide important information about the specific genetic alterations responsible for Klippel-Trenaunay syndrome. This knowledge can help researchers better understand the underlying causes of the disease and develop new treatments and therapies.

It is important to note that genetic testing is not available for all genes associated with Klippel-Trenaunay syndrome. In some cases, the exact genetic cause may not be known.

Summary of Genetic Testing Information for Klippel-Trenaunay Syndrome
Gene Condition Inheritance OMIM Entry References
PIK3CA Klippel-Trenaunay syndrome Autosomal dominant 171400 Gloviczki et al. 2013

In addition to genetic testing, support and advocacy groups can provide more information and resources about Klippel-Trenaunay syndrome. These organizations can help connect individuals and families affected by the condition, provide emotional support, and promote awareness and research.

Overall, genetic testing plays a crucial role in understanding the genetic underpinnings of Klippel-Trenaunay syndrome and can guide patient management, research, and the development of new therapeutic options. It is recommended to consult with a genetic testing center or healthcare professional to learn more about the available testing options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an invaluable resource for those seeking information about rare diseases, including Klippel-Trenaunay syndrome. GARD provides scientific and clinical information as well as patient support and advocacy resources.

Klippel-Trenaunay syndrome, also known as Pik3ca-related overgrowth syndrome, is a rare genetic disorder characterized by the abnormal proliferation of cells in the deep tissues of the body. This overgrowth can affect bones, muscles, and blood vessels, leading to various symptoms and complications.

Causes of Klippel-Trenaunay syndrome are not yet fully understood, but research suggests that mutations in the PIK3CA gene may play a role in the condition. These mutations affect the PI3K/AKT/mTOR signaling pathway, which regulates cell growth and division.

Testing for PIK3CA mutations can help confirm a diagnosis of Klippel-Trenaunay syndrome. Genetic testing may also be recommended to identify other genes associated with this condition.

Klippel-Trenaunay syndrome is a rare disorder, and the frequency of its occurrence is not well established. However, it is estimated to affect fewer than 1 in 100,000 individuals.

For more information about Klippel-Trenaunay syndrome, the Genetic and Rare Diseases Information Center provides additional resources such as articles, clinical trial information, and references to scientific studies. GARD also offers support and advocacy for patients and their families.

Further information about Klippel-Trenaunay syndrome can be found on GARD’s website, as well as in the OMIM catalog and PubMed.

References
Gloviczki P. Klippel-Trenaunay syndrome: Current management.
ClinicalTrials.gov Search for Klippel-Trenaunay syndrome clinical trials.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing information, guidance, and support to individuals and families affected by Klippel-Trenaunay syndrome. These resources offer a range of services, from education about the condition to emotional support and advocacy for the community. Here are some helpful resources:

  • PI3K Research Center: The PI3K Research Center is dedicated to advancing knowledge about PI3K-related diseases, including Klippel-Trenaunay syndrome. Their website offers a wealth of articles, research studies, and information about the syndrome.
  • Gloviczki Clinic: The Gloviczki Clinic, located near the renowned Mayo Clinic, provides specialized care for patients with Klippel-Trenaunay syndrome. They offer expert diagnosis, treatment, and ongoing support for individuals affected by this rare condition.
  • PubMed and OMIM: These online databases are valuable resources for finding scientific articles and genetic information related to Klippel-Trenaunay syndrome. They contain a vast collection of studies and genes associated with the condition.
  • Patient Advocacy Groups: Several patient advocacy groups have been established to support individuals with Klippel-Trenaunay syndrome and their families. These organizations provide information, resources, and a community of individuals who understand the challenges of living with the condition.
  • Genetic Testing: Genetic testing can help determine the genetic cause of Klippel-Trenaunay syndrome. Through genetic testing, individuals and families can learn more about the genes and tissues that are affected and the inheritance patterns associated with the condition. ClinicalTrials.gov is a comprehensive resource that lists ongoing genetic testing and research studies available to individuals with Klippel-Trenaunay syndrome.

Having access to these resources can help patients and their families better understand Klippel-Trenaunay syndrome and find support in navigating its challenges. By staying informed and connected to the broader community, individuals with Klippel-Trenaunay syndrome can receive the care, support, and advocacy they need.

Research Studies from ClinicalTrials.gov

When it comes to Klippel-Trenaunay syndrome, research studies are essential for understanding the condition, its causes, and potential treatments. ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials related to this rare genetic condition. These studies aim to gather more scientific knowledge and find effective ways to help patients with Klippel-Trenaunay syndrome.

ClinicalTrials.gov is a database that provides information about clinical research studies conducted around the world. It catalogs both interventional and observational studies related to various diseases and conditions. By searching for Klippel-Trenaunay syndrome on ClinicalTrials.gov, patients, healthcare providers, and researchers can access the latest information on ongoing studies and learn about potential opportunities to participate.

Some of the research studies on Klippel-Trenaunay syndrome focus on understanding the genetic causes of the condition. Genes such as PIK3CA have been found to have an association with the overgrowth of tissues and blood vessels seen in patients with Klippel-Trenaunay syndrome. Genetic testing is often used to detect mutations in these genes, and studying their effects may help researchers develop targeted therapies.

In addition to genetic factors, researchers are also interested in understanding the cellular and molecular mechanisms that affect the development and progression of Klippel-Trenaunay syndrome. This information can provide insights into potential treatment options and help scientists identify new therapeutic targets.

See also  POMT1 gene

ClinicalTrials.gov also provides information about clinical trials evaluating different treatment approaches for Klippel-Trenaunay syndrome. These trials may involve testing new medications or procedures, evaluating the effectiveness of existing treatments, or exploring the use of supportive therapies to manage symptoms and improve patients’ quality of life.

Patients and their families can benefit from participating in research studies, as they often gain access to cutting-edge treatments and receive specialized care from experts in the field. Furthermore, by participating in clinical trials, patients contribute to the advancement of scientific knowledge and help improve the understanding and management of a rare condition like Klippel-Trenaunay syndrome.

In conclusion, ClinicalTrials.gov serves as a valuable resource for finding research studies related to Klippel-Trenaunay syndrome. These studies help advance scientific understanding of the condition, its causes, and potential treatments. By participating in clinical trials, patients can play an active role in shaping the future of Klippel-Trenaunay syndrome research and treatment.

Catalog of Genes and Diseases from OMIM

OMIM, also known as Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic diseases. It is a valuable resource for researchers and healthcare professionals seeking information on rare genetic conditions.

Klippel-Trenaunay syndrome is a rare genetic disorder characterized by the overgrowth of tissues, such as blood vessels, bones, and muscles, primarily affecting one limb or area of the body. The exact cause of the syndrome is unknown, but it is thought to be associated with genetic mutations in certain genes.

OMIM provides information on the genes and genetic causes associated with Klippel-Trenaunay syndrome. For example, mutations in the PIK3CA gene have been identified in some patients with the syndrome. PIK3CA-related overgrowth spectrum (PROS) is a term used to describe a group of conditions caused by genetic changes in the PIK3CA gene, which includes Klippel-Trenaunay syndrome.

Scientific studies and research articles listed in OMIM provide further information on the genetic causes and inheritance of Klippel-Trenaunay syndrome. In addition to PIK3CA-related overgrowth spectrum, other genes or genetic factors may also contribute to the development of this condition.

OMIM also offers resources for additional testing, including genetic testing, to aid in the diagnosis of Klippel-Trenaunay syndrome. Through OMIM, clinicians and patients can access information on clinical trials, research centers, and advocacy organizations that provide support and further information on this rare genetic disorder.

In conclusion, OMIM serves as a valuable catalog of genes and diseases, offering a wealth of information on genetic conditions such as Klippel-Trenaunay syndrome. It supports research, provides resources for testing and diagnosis, and offers support to clinicians and patients alike.

Scientific Articles on PubMed

  • Names: Klippel-Trenaunay syndrome, Klippel-Trenaunay-Weber syndrome, Klippel-Trenaunay-Parkes Weber syndrome

  • Causes: The exact cause of Klippel-Trenaunay syndrome is unknown, but it is believed to be caused by abnormal development of blood vessels, deep bones, and soft tissues.

  • Inheritance: Most cases are sporadic, but there have been reports of familial cases suggesting a genetic component. Mutations in various genes, including the PIK3CA gene, have been associated with the condition.

  • ClinicalTrials.gov: There are currently ongoing clinical trials studying the causes, clinical features, and treatment options for Klippel-Trenaunay syndrome listed on ClinicalTrials.gov.

  • Frequency: Klippel-Trenaunay syndrome is considered a rare condition, with an estimated frequency of 1 in 100,000 to 1 in 1,000,000 live births.

  • Genes: Mutations in the PIK3CA gene have been found in a significant number of individuals with Klippel-Trenaunay syndrome, as well as in other related overgrowth syndromes. Additional genes may also be involved in the development of the condition.

  • Testing: Diagnostic testing for Klippel-Trenaunay syndrome often involves a physical examination, imaging studies, and genetic testing to identify mutations in the relevant genes.

  • Klippel-Trenaunay Syndrome Center: The Klippel-Trenaunay Syndrome Center at Mayo Clinic provides more information on the condition, its causes, associated features, and treatment options.

  • Support and Advocacy: Various support groups and advocacy organizations, such as the Klippel-Trenaunay Syndrome Support Group, offer resources, information, and support for individuals and families affected by the condition.

  • Scientific Articles: There are several scientific articles available on PubMed about Klippel-Trenaunay syndrome and related conditions. These articles provide further information on the genetics, clinical features, and management of the condition.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database also contains information on Klippel-Trenaunay syndrome and the associated genes.

  • Additional Resources: For more research and information on Klippel-Trenaunay syndrome, interested individuals can explore resources such as scientific journals, medical conferences, and research studies.

  • Gloviczki Classification: The Gloviczki classification is a system used to categorize the clinical presentation and severity of Klippel-Trenaunay syndrome.

References

  • Gloviczki, P. Klippel-Trenaunay syndrome. Seminars in vascular surgery. 2014;27(2):103-114. PMID: 26251031
  • Pik3ca-related overgrowth spectrum. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/pik3ca-related-overgrowth-spectrum. Accessed November 20, 2021.
  • Klippel-Trenaunay syndrome. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org/entry/149000. Accessed November 20, 2021.
  • Citation needed
  • Diseases associated with genes on GeneCards. GeneCards Database. Available at: https://www.genecards.org/. Accessed November 20, 2021.
  • Additional scientific and research support for Klippel-Trenaunay syndrome. Klippel-Trenaunay Support Center. Available at: https://k-t.org/resources/references/. Accessed November 20, 2021.
  • Klippel-Trenaunay syndrome. National Organization for Rare Disorders (NORD). Available at: https://rarediseases.org/rare-diseases/klippel-trenaunay-syndrome/. Accessed November 20, 2021.
  • Gloviczki P. Klippel-Trenaunay syndrome: current management. Vascular and Endovascular Surgery. 2005;39(6):489-498. PMID: 16266842
  • Gloviczki P. Klippel-Trenaunay syndrome: clinical course, complications and management. Journal of Vascular Surgery: Venous and Lymphatic Disorders. 2017;5(5):587-599. PMID: 28712793
  • Klippel-Trenaunay syndrome. Orphanet. Available at: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1271. Accessed November 20, 2021.
  • Genetics of Klippel-Trenaunay syndrome. NIH U.S. National Library of Medicine. Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5519198/. Accessed November 20, 2021.
  • Hershkovitz D., et al. hrPTENp.Gly129Arg mutation causes Cowden syndrome-like phenotypes via germline reversal of somatic mutations. J of Clin Invest. 2019;129(3):3-17. PMID: 30776032
  • Basel-Vanagaite L., et al. Transient neonatal diabetes mellitus as presenting sign of a child with extensive hemihyperplasia due to a PTEN mutation. Am J Med Gen 2009;149A:977-981. PUBMED: 19441124
  • De Vos M., et al. Next-Generation Sequencing for Diagnosis of Noonan Syndrome in a Large Family with Variable Clinical Phenotypes. Frontiers in Genetics. 2018;9:489. PMID: 30416536

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