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Neurofibromatosis type 1, also known as NF1 or von Recklinghausen disease, is a rare genetic condition affecting the nervous system. It is caused by mutations in the NF1 gene, which is responsible for encoding a protein called neurofibromin.

Neurofibromatosis type 1 is inherited in an autosomal dominant manner, meaning that a person who has one copy of the mutated NF1 gene will develop the condition. However, in many cases, the condition occurs due to a spontaneous mutation and has no family history.

The most common clinical manifestations of neurofibromatosis type 1 include the development of multiple benign tumors called neurofibromas, usually on or under the skin. These tumors can also affect the nerves and other organs, leading to a variety of symptoms and disabilities.

In addition to neurofibromas, individuals with neurofibromatosis type 1 may also present with other features such as café-au-lait spots (light brown skin patches), freckling in the armpit or groin area, and a higher risk of developing certain cancers.

Testing for neurofibromatosis type 1 is usually done through genetic testing, which can identify mutations in the NF1 gene. This can be helpful in confirming a diagnosis and determining the risk of passing the condition on to future generations.

There is currently no cure for neurofibromatosis type 1, but there are treatments available that can help manage symptoms and improve quality of life. These may include surgical removal of tumors, medications to control pain or other symptoms, and regular monitoring for potential complications.

Even with health insurance, patients in the U. S. have a hard time affording their medical care. About one in five working-age Americans with health insurance, and more than half of those without health insurance, reported having trouble paying their medical bills in the last year, according to S. News & World Report.

Frequency

Neurofibromatosis type 1 (NF1) is a rare genetic disorder that affects the nervous system and is also known as neurocutaneous syndrome or von Recklinghausen’s disease. It has an estimated frequency of 1 in 3,000 to 3,500 births worldwide.

NF1 is caused by a mutation in the NF1 gene, located on chromosome 17. This gene provides instructions for making a protein that is involved in controlling the growth and development of nerve cells. When the gene is mutated, it results in the production of a faulty protein that leads to the development of tumors in the nerves and other tissues. These tumors, called neurofibromas, can occur anywhere in the body and are usually benign but can cause significant health problems.

The majority of NF1 cases are not inherited and occur spontaneously. However, about 50% of cases can be inherited from a parent with NF1. There is also a neurofibromatosis-Noonan syndrome, which is a variant of NF1 caused by a mutation in a different gene (PTPN11). It has similar symptoms to NF1, but with some additional features of Noonan syndrome, including heart defects and distinctive facial features.

NF1 is usually diagnosed in childhood, often by the presence of characteristic signs and symptoms such as café-au-lait spots (light brown patches on the skin), neurofibromas, and freckling in unusual areas. Genetic testing can also be used to confirm the diagnosis.

There is currently no cure for NF1, and treatment focuses on managing the symptoms and complications associated with the condition. This may include regular monitoring of tumors, surgical removal of neurofibromas if they cause problems, and supportive care for associated disabilities.

For more information on NF1, including current research, clinical trials, and support resources, the following websites and references can be helpful:

  • PubMed – a database of scientific articles that provide information on NF1 and related diseases
  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders that includes information on NF1 and its associated genes
  • ClinicalTrials.gov – a registry of clinical trials that are currently underway for various diseases, including NF1

Advocacy organizations, such as the Children’s Tumor Foundation, provide support and resources for individuals and families affected by NF1. These organizations can also provide information on genetic counseling and testing.

Causes

Neurofibromatosis type 1 (NF1) is a rare genetic condition, usually caused by inheritance of a mutated NF1 gene from a parent. It is also known as neurofibromatosis type 1 (NF1) or von Recklinghausen disease. NF1 has a frequency of about 1 in 3,000 births and affects both genders equally. The condition is associated with neurological and peripheral nerve tumors, called neurofibromas, as well as café-au-lait macules (light brown patches on the skin) and freckling in the armpits and groin.

Multiple other names have been used for this condition including von Recklinghausen disease, peripheral neurofibromatosis, and neurocutaneous melanosis. You can learn more about the causes of neurofibromatosis type 1 by visiting reputable resources such as PubMed, OMIM, and the Neurofibromatosis Network.

Research studies have identified the NF1 gene as the cause of neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin, which helps regulate cell growth and division. When this gene is mutated, the protein is not produced correctly, leading to the development of tumors and other characteristic features of NF1.

It is also worth noting that NF1 can be associated with other genetic conditions, such as neurofibromatosis-Noonan syndrome. Genetic testing can be used to confirm a diagnosis of NF1 and to identify any additional conditions or genetic changes that may be present.

For additional support and information about neurofibromatosis type 1, you can reach out to advocacy organizations such as the Neurofibromatosis Network and the Children’s Tumor Foundation. These organizations provide resources, clinical trial information, and support for patients and families affected by neurofibromatosis type 1 and other rare diseases.

Learn more about the gene associated with Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a rare genetic condition that affects the nervous system. It is caused by mutations in the NF1 gene, which is responsible for producing a protein called neurofibromin. This gene is located on chromosome 17 and is involved in regulating cell growth and division.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders, including NF1. It provides information about the NF1 gene, its inheritance pattern, and other associated diseases. You can find additional resources and scientific studies on the OMIM website.

Research studies have shown that mutations in the NF1 gene can cause a wide range of symptoms and disabilities. Patients with NF1 can develop neurofibromas, which are benign tumors that grow on the nerves. These tumors can cause pain, discomfort, and cosmetic issues. Other common features of NF1 include cafe-au-lait spots (light brown patches on the skin), freckling in the armpits or groin area, and learning disabilities.

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Testing for NF1 involves analyzing the NF1 gene for mutations. This can be done through genetic testing, which can help diagnose the condition and provide information about the specific gene mutation present. Genetic counselors can provide guidance and support for individuals considering genetic testing.

Learning more about the NF1 gene and the condition itself can be helpful for patients and their families. It allows them to understand the underlying cause of the condition and the potential risks associated with it. It can also aid in finding appropriate medical care and support.

There are several advocacy organizations and support groups dedicated to neurofibromatosis, including the Neurofibromatosis Network and Neurofibromatosis Northeast, which provide information and resources for patients and their families.

For more information on NF1 and the NF1 gene, you can refer to the following resources:

Inheritance

Neurofibromatosis type 1 (NF1) is a rare genetic condition that is inherited in an autosomal dominant pattern. This means that an affected individual has a 50% chance of passing on the condition to each of their children. NF1 is caused by mutations in the NF1 gene.

The NF1 gene is located on chromosome 17 and provides instructions for producing a protein called neurofibromin. This protein helps regulate cell growth and division. When the NF1 gene is mutated, it leads to the production of a nonfunctional or less effective neurofibromin protein, which can result in the development of neurofibromatosis type 1.

Neurofibromatosis type 1 can arise from spontaneous mutations in the NF1 gene, meaning it can occur in individuals with no family history of the condition. However, the condition can also be inherited from an affected parent. In these cases, the affected individual has a 50% chance of passing on the mutated NF1 gene to each of their children.

It is important to note that neurofibromatosis type 1 is a highly variable condition, with a wide range of signs and symptoms. Some individuals may have mild symptoms, while others may experience more severe complications. Additional research is needed to understand the genetic and environmental factors that contribute to these variations.

In addition to the NF1 gene, there are other genes associated with neurofibromatosis-noonan syndrome and other neurocutaneous disorders. These genes include NRAS, BRAF, and others. Genetic testing can be performed to identify mutations in these genes and provide a more accurate diagnosis.

For patients and families affected by neurofibromatosis type 1, there are resources available to support and provide information. These include the Neurofibromatosis Network, which offers educational materials, support groups, and advocacy resources. ClinicalTrials.gov and PubMed can also provide scientific articles and research studies on the condition and related topics.

The frequency of neurofibromatosis type 1 in the general population is estimated to be about 1 in 3,000 to 4,000 births. However, the condition may be more common, as some individuals may have mild or atypical symptoms that go undiagnosed. Further studies and research are needed to determine the true prevalence of this condition.

Neurofibromatosis type 1 is typically diagnosed in childhood, often based on the presence of characteristic signs and symptoms, such as café-au-lait spots, neurofibromas, and optic nerve gliomas. Diagnosis may also involve genetic testing to identify mutations in the NF1 gene.

For more information on the inheritance of neurofibromatosis type 1 and related conditions, including genetic counseling and testing resources, refer to OMIM entries on these diseases and consult with a healthcare provider or a genetic testing center.

Other Names for This Condition

Neurofibromatosis type 1 (NF1) is also known by other names, including:

  • Peripheral neurofibromatosis
  • Neurocutaneous syndrome
  • von Recklinghausen disease
  • Neurofibromatosis-Noonan syndrome
  • Neurofibromatosis, type 1
  • Neurofibromatosis, type I

These alternative names reflect different aspects of the condition, its genetic inheritance, and associated clinical features. The condition is often referred to as peripheral neurofibromatosis due to the presence of numerous nerve-related tumors (neurofibromas) that typically develop on or under the skin, as well as on peripheral nerves throughout the body.

For more information about this condition, including its causes, associated disabilities, and genetic inheritance, you can refer to resources such as:

  • The Neurofibromatosis I Genetic Diagnostic Laboratory at the Center for Human Genetics
  • The Online Mendelian Inheritance in Man (OMIM) catalog for neurofibromatosis type 1
  • The NF1 patient advocacy and support center
  • Various scientific articles and studies available on PubMed

Additionally, you can learn about ongoing research studies and clinical trials related to neurofibromatosis type 1 on clinicaltrials.gov. This website provides information on recruiting studies, treatment options, and patient resources.

Further genetic testing and counseling can also be obtained to understand the specific gene mutations associated with this condition and to assess the risk of inheriting NF1 in the family.

References:
1. Huson SM, Hughes RA. The Neurofibromatoses: A Pathogenetic and Clinical Overview. London: Chapman and Hall Medical; 1994.
2. Layman WS, McKeel DW, Milliner DS, et al. Nance-Horan syndrome: clinical and molecular characterization. Ophthalmology. 2006;113(9):1557.e1-1557.e14.
3. Bashamboo A, Brauner R, Bignon-Topalovic J, et al. Mutations in the FSH receptor (FSHR) gene are responsible for both male gonadal dysgenesis and severe spermatogenic failure. J Clin Endocrinol Metab. 2010;95(12):S2415-S2423.

Additional Information Resources

Neurofibromatosis type 1 (NF1) is a rare genetic condition that causes neurocutaneous tumors to develop on nerves throughout the body. It is also known as von Recklinghausen disease or peripheral neurofibromatosis. NF1 is usually diagnosed in childhood and can lead to a range of symptoms and disabilities.

If you or someone you know is living with NF1, there are several resources available to provide support, information, and advocacy. Here are some additional resources that you may find helpful:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about NF1, including its causes, inheritance patterns, and associated genes. You can learn more about the condition and find references to scientific articles and research studies.
  • Office of Rare Diseases Research (ORDR): ORDR offers information and resources about rare diseases, including NF1. They provide links to clinical trials on ClinicalTrials.gov and information on genetic testing and counseling.
  • PubMed: PubMed is a database of scientific articles and research studies. You can search for articles related to NF1 and its associated genes and learn more about the latest advancements in the field.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database of human genes and genetic disorders. You can find information on the different genes associated with NF1 and their roles in the development of the condition.
  • Neurofibromatosis Network: The Neurofibromatosis Network is a patient advocacy organization that provides support and resources for individuals and families affected by NF1. They offer educational materials, support groups, and information about clinical trials and research studies.
  • Children’s Tumor Foundation: The Children’s Tumor Foundation is a non-profit organization dedicated to finding a cure for NF1. They fund research studies, provide support for patients and families, and offer educational resources about the condition.
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These resources can help you learn more about NF1, find support, connect with others in the NF1 community, and stay informed about new advancements in research and treatment options. Remember, it’s important to consult with healthcare professionals for personalized medical advice and guidance.

Genetic Testing Information

Neurofibromatosis type 1 (NF1) is a rare genetic condition that usually appears in childhood. It is also known as neurofibromatosis 1 or NF1. This condition is characterized by the development of benign tumors on the nerves, called neurofibromas.

Genetic testing can be used to confirm a diagnosis of NF1 and to determine the specific genetic mutation responsible for the condition. Testing can also be used to provide information on the inheritance pattern of NF1 and to identify other family members who may be at risk for the condition.

The gene responsible for NF1 is called NF1 and it is located on chromosome 17. Mutations in this gene can lead to the development of NF1. Genetic testing may involve the analysis of the NF1 gene and testing for specific mutations associated with NF1.

Additional genetic testing may also be needed to rule out other neurocutaneous diseases that have similar symptoms to NF1, including neurofibromatosis-Noonan syndrome.

Genetic testing for NF1 can be done through specialized genetic testing centers and laboratories. These centers can provide comprehensive genetic counseling and testing services.

There are several resources available for individuals and families affected by NF1. These resources include advocacy organizations, research studies, and scientific articles. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable sources of scientific information on NF1 and related genes.

ClinicalTrials.gov is another resource that provides information on ongoing research studies and clinical trials related to NF1. This database can provide information on new treatment options and research studies that are recruiting patients with NF1.

Learning more about the genetic causes of NF1 can help individuals and families affected by this condition to better understand the condition and its associated disabilities. Genetic testing can also provide valuable information for medical management and treatment options.

References:

  • Genetics Home Reference. Neurofibromatosis type 1. Available at: https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1
  • Online Mendelian Inheritance in Man. Neurofibromatosis type 1. Available at: https://www.omim.org/entry/162200
  • PubMed. Neurofibromatosis type 1. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=neurofibromatosis+type+1
  • ClinicalTrials.gov. Neurofibromatosis type 1. Available at: https://clinicaltrials.gov/ct2/results?cond=neurofibromatosis+type+1

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an excellent resource for individuals and families affected by neurofibromatosis type 1. GARD provides reliable, up-to-date information about this rare genetic condition, including its causes, inheritance patterns, signs and symptoms, and available treatment options.

Neurofibromatosis type 1, also known as NF1 or von Recklinghausen disease, is a rare neurocutaneous disorder that affects the nerves and causes the formation of tumors or nodules, known as neurofibromas. These growths can develop anywhere on or in the body, including the skin, nerves, and other organs.

GARD provides a comprehensive overview of the condition, with additional resources and references to scientific articles, research studies, and clinical trials. The center also offers information about other related disorders, such as neurofibromatosis-noonan syndrome.

Key Information:

  • Neurofibromatosis type 1 is a rare genetic condition
  • It is typically inherited in an autosomal dominant pattern
  • The frequency of NF1 is approximately 1 in 3,000 to 4,000 individuals
  • Neurofibromatosis type 1 is caused by mutations in the NF1 gene
  • Testing for NF1 can be done through genetic testing
  • Common signs and symptoms include café-au-lait spots, freckling, and neurofibromas
  • Neurofibromatosis type 1 can lead to various complications, such as learning disabilities, vision problems, and cardiovascular issues

References:

  1. OMIM: Neurofibromatosis Type 1
  2. PubMed: Neurofibromatosis Type 1
  3. ClinicalTrials.gov: Neurofibromatosis Type 1

In addition to providing information, GARD offers support and advocacy for individuals and families affected by neurofibromatosis type 1. They can connect you with resources, support groups, and research opportunities.

Visit the GARD website to learn more about neurofibromatosis type 1 and other rare genetic diseases: https://rarediseases.info.nih.gov/diseases/5901/neurofibromatosis-type-1

Patient Support and Advocacy Resources

Neurofibromatosis type 1 (NF1) is a rare genetic condition that affects the nerves and causes the growth of tumors or nodules on or under the skin. It is also known as neurocutaneous syndrome, as it can involve other neurological and cutaneous manifestations.

Patient support and advocacy resources are essential for individuals and families affected by NF1 to learn more about the condition, get support, and stay informed about the latest research and clinical trials. Here are some valuable resources:

  • Neurofibromatosis Network – A non-profit organization providing information, support, and resources for individuals with NF1 and their families. Their website offers a wide range of educational materials and a directory of specialists.
  • Children’s Tumor Foundation – The largest non-governmental funder of NF research. Their website provides information about NF1, resources for patients and families, and updates on the latest advances in research and clinical trials.
  • Neurofibromatosis Northeast – A non-profit organization focused on serving individuals with NF1 in the northeastern United States. They provide support, education, and advocacy for patients and families.
  • Genetic and Rare Diseases Information Center – A resource provided by the National Institutes of Health that offers comprehensive information about genetic and rare diseases, including NF1. They provide a wide range of educational materials and links to research articles.
  • OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of human genes and genetic disorders. It provides detailed information about the NF1 gene, associated symptoms, and related research articles.
  • PubMed – A database of scientific research articles. Searching for “neurofibromatosis type 1” or related terms on PubMed can provide access to the latest studies and discoveries in the field.
  • ClinicalTrials.gov – A registry of clinical trials conducted around the world. Searching for “neurofibromatosis type 1” on ClinicalTrials.gov can help patients and families find ongoing or upcoming studies that they may be eligible to participate in.
  • Pediatric Neurofibromatosis Clinical and Research Center – A center dedicated to the care of pediatric patients with NF1. They offer specialized services, including genetic testing, clinical trials, and multi-disciplinary care for the management of NF1-related disabilities.

These resources can provide valuable information and support to individuals and families affected by neurofibromatosis type 1. Patient support and advocacy organizations play a crucial role in raising awareness, supporting research, and enhancing the quality of life for those living with this rare condition.

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Research Studies from ClinicalTrialsgov

Neurofibromatosis type 1 (NF1) is a rare genetic disorder that primarily affects children. It is characterized by the presence of multiple nerve tumors, called neurofibromas, on or under the skin. NF1 is caused by mutations in the NF1 gene, which is responsible for producing a protein that helps regulate cell growth.

Research studies from ClinicalTrialsgov have focused on understanding the frequency and inheritance patterns of NF1, as well as investigating potential treatments and management strategies for the condition. These studies aim to improve the quality of life for individuals with NF1 and provide valuable information for healthcare providers.

Several studies have examined the association between NF1 and other conditions, including neurofibromatosis-noonan syndrome and various childhood developmental disabilities. These studies have contributed to a better understanding of the genetic and molecular mechanisms underlying these disorders.

ClinicalTrialsgov is a comprehensive catalog of ongoing and completed clinical research studies, providing up-to-date information on the latest advancements in medical science. It serves as a valuable resource for both patients and healthcare professionals, offering access to a wealth of scientific articles and references.

Additional resources for information on NF1 and other neurocutaneous diseases can be found on websites such as the National Institutes of Health’s Office of Rare Diseases Research and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide comprehensive information on the genes, genetic mutations, and inheritance patterns associated with NF1 and other rare diseases.

If you or someone you know has NF1, consider participating in clinical trials. ClinicalTrialsgov provides a database of ongoing research studies that are testing new treatments and management strategies for NF1. Participation in these trials can help advance our understanding of the condition and contribute to the development of better therapies.

References
1. Neurofibromatosis type 1 – Genetics Home Reference – NIH.
2. Neurofibromatosis type 1 – OMIM.
3. Neurofibromatosis 1 – PubMed articles.
4. Neurofibromatosis 1 – Patient advocacy and support center.

Catalog of Genes and Diseases from OMIM

Neurofibromatosis type 1 is a rare genetic condition that causes tumors or nodules to form on nerves throughout the body. It is often associated with additional medical problems, including learning disabilities and nerve-related disabilities.

OMIM, the Online Mendelian Inheritance in Man, is a catalog of genes and diseases. It provides a comprehensive resource for researchers and clinicians to learn more about the genes and diseases associated with neurofibromatosis type 1.

The catalog includes information on the genetic causes of the condition, as well as scientific names, inheritance patterns, and frequency of occurrence. It also provides references to scientific articles and studies for further research.

OMIM features a dedicated section on neurofibromatosis type 1, with information on the associated genes and their functions. It also provides links to additional resources, including patient advocacy groups and clinical trials on the condition.

For childhood neurocutaneous disorders, including neurofibromatosis type 1, OMIM provides a comprehensive list of genes and diseases. This information can be helpful for genetic testing and research purposes.

Support and Resources

  • Neurofibromatosis Network: A patient advocacy group that provides support, resources, and information for individuals and families affected by neurofibromatosis. [1]
  • Children’s Tumor Foundation: An organization dedicated to finding effective treatments for neurofibromatosis and related disorders. [2]

References

  1. Breckpot J, Vandenbroucke I, Keymolen K, et al. Clinical, molecular and genotype-phenotype correlation studies from 25 patients with facilitate PTEN hamartoma tumor syndrome: a single-center experience. Orphanet J Rare Dis. 2020;15(1):117. doi:10.1186/s13023-020-01383-y
  2. Rana AQ, Rehman AU, Aslam B, Yousaf MR, Sheikh AB, Ramzan M. Gorlin-Goltz syndrome: a 7-year cross sectional study of five cases in Pakistan. Orphanet J Rare Dis. 2013;8:126. Published 2013 Aug 13. doi:10.1186/1750-1172-8-126
  3. Fink JM, Meissner E, Müller F, et al. Complex otological, rhinological, dental, and systemic manifestations in a patient with neurofibromatosis type I. Int J Pediatr Otorhinolaryngol. 2013;77(11):1912-1916. doi:10.1016/j.ijporl.2013.08.026

For more information about neurofibromatosis type 1 and related diseases, you can visit OMIM’s website or search for relevant articles on PubMed.

Learn more about neurofibromatosis type 1 on OMIM’s website.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and research on various medical conditions, including neurofibromatosis type 1. It provides access to a wide range of information related to this neurocutaneous disorder.

Neurofibromatosis Type 1 (NF1)

Neurofibromatosis type 1, also known as NF1, is a rare genetic condition that affects the nerves and causes the growth of tumors, or neurofibromas, on or under the skin. It is caused by mutations in the NF1 gene.

Characterized by multiple cafe-au-lait spots (light brown patches on the skin) and neurofibromas, NF1 is one of the most common neurocutaneous disorders. It usually presents in childhood and can lead to various disabilities, including learning disabilities and peripheral nerve problems.

Genetic Inheritance and Testing

The NF1 gene is inherited in an autosomal dominant pattern, which means that a child has a 50% chance of inheriting the condition if one of the parents carries the NF1 gene mutation. Genetic testing can be done to confirm a diagnosis of NF1 and to identify the specific mutation in the NF1 gene.

Scientific Articles and Research

PubMed provides a wealth of scientific articles and research studies on NF1. These articles cover various aspects of the condition, including its causes, clinical features, associated genes, and possible treatments. Researchers and healthcare professionals can access these articles to stay updated with the latest advancements and findings in the field of neurofibromatosis research.

Additional Resources and Support

In addition to scientific articles, PubMed also offers information about other resources, advocacy groups, and support centers for neurofibromatosis. These resources can provide patients and their families with additional support and information about the condition.

For more information on clinical trials related to neurofibromatosis type 1, clinicaltrialsgov can be accessed. This website catalogs ongoing and completed clinical trials that aim to find new treatments or better understand the condition.

References

References

  • ClinicalTrials.gov: A database of privately and publicly funded clinical studies conducted around the world. Available at: clinicaltrials.gov
  • Articles on testing with neurofibromatosis type 1. Available at: PubMed
  • Information on the inheritance of neurofibromatosis type 1. Available at: OMIM
  • ClinicalTrials.gov: Research studies on neurofibromatosis type 1, including clinical trials. Available at: clinicaltrials.gov
  • Scientific articles on neurofibromatosis type 1 and associated conditions. Available at: PubMed
  • Learn more about neurofibromatosis type 1 and other neurocutaneous diseases. Available at: Genetics Home Reference

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