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Legius syndrome is a rare genetic condition that is caused by mutations in the SPRED1 gene. It is often confused with neurofibromatosis, as it has similar symptoms and inheritance patterns. However, Legius syndrome is a milder form of the disease and does not typically lead to the formation of neurofibromas.

The SPRED1 gene provides instructions for making a protein that helps regulate cell growth and division. Mutations in this gene can disrupt the normal functioning of the protein, leading to the development of Legius syndrome.

Legius syndrome is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the condition. However, some people with Legius syndrome have no family history of the disease, as the mutations can also occur spontaneously.

Currently, there is no cure for Legius syndrome. However, there are resources available for patients and their families to learn more about the condition and find support. Scientific studies, such as those referenced on PubMed and clinicaltrialsgov, provide valuable information on the genetic causes, symptoms, and frequency of Legius syndrome.

Additional resources can be found at the Genetic and Rare Diseases Information Center, the OMIM catalog of human genes and genetic disorders, and the Legius Syndrome Advocacy and Support website. These resources offer information on testing for Legius syndrome, support groups, and ongoing research. With the help of these resources, patients and their families can access the latest information and support to better manage the symptoms and implications of this rare condition.

Frequency

Legius syndrome is a rare genetic condition that is often mistaken for neurofibromatosis type 1 (NF1). While NF1 affects approximately 1 in 3,000 individuals, the exact frequency of Legius syndrome is unknown. Legius syndrome was first described in 2007 by Legius et al. and is named after Dr. Eric Legius, who made important contributions to the understanding of the condition.

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Because it is a relatively newly recognized condition, there are not many scientific articles or studies available on Legius syndrome. While some publications may exist in PubMed or other genetic disorders catalog, more research is needed to fully understand the frequency and clinical characteristics of this condition.

Legius syndrome is caused by mutations in the SPRED1 gene. Mutations in this gene are also associated with NF1 and result in similar symptoms. However, it is important to note that Legius syndrome is distinct from NF1 and has a different pattern of inheritance.

The symptoms of Legius syndrome can vary widely from patient to patient. Some patients may have only mild symptoms, while others may have more severe manifestations. These symptoms can include café-au-lait spots, skin fold freckling, macrocephaly, lentigines, lipomas, and learning difficulties.

Due to the overlap in symptoms between Legius syndrome and NF1, genetic testing is necessary to accurately diagnose the condition. Testing can help differentiate Legius syndrome from NF1 and other causes of similar symptoms. If a mutation is found in the SPRED1 gene, this is consistent with a diagnosis of Legius syndrome.

For more information about Legius syndrome, genetic testing, and other associated genes and disorders, resources such as OMIM (Online Mendelian Inheritance in Man) and Genet Test Mol Biomarkers may be helpful. ClinicalTrials.gov can provide information on ongoing clinical trials and studies related to Legius syndrome. Support and advocacy groups can also provide valuable support, information, and resources for patients and families affected by this rare condition.

In conclusion, Legius syndrome is a rare genetic condition that occurs in many individuals. It is distinct from neurofibromatosis type 1 and is caused by mutations in the SPRED1 gene. The exact frequency of Legius syndrome is unknown, but it is believed to be rare. Further research and studies are needed to better understand this condition and its associated genes and symptoms.

Causes

The Legius syndrome is caused by a mutation in the SPRED1 gene. This gene provides instructions for making a protein that plays a role in signaling pathways that help regulate cell growth and division. When the SPRED1 gene is mutated, it disrupts normal cell signaling and can lead to the development of Legius syndrome.

Legius syndrome is similar to another condition called neurofibromatosis type 1 (NF1), as both conditions involve similar symptoms such as café-au-lait spots (light brown patches on the skin) and freckling in the armpits and groin. However, Legius syndrome is not caused by mutations in the NF1 gene, which is responsible for neurofibromatosis type 1.

While Legius syndrome is a rare condition, it has been reported in various populations around the world. Some studies have suggested that the frequency of Legius syndrome may be higher than initially believed. However, more research is needed to determine the exact prevalence of this condition.

To diagnose Legius syndrome, genetic testing can be performed to look for mutations in the SPRED1 gene. This testing can confirm a diagnosis in individuals who exhibit the characteristic symptoms of the condition. Genetic counseling may also be helpful for individuals and families who have been diagnosed with Legius syndrome.

Additional information and support for individuals with Legius syndrome can be found through patient advocacy groups, research centers, and rare disease organizations. Many resources are available to learn more about the disorder, including scientific articles, genetic databases, and clinical trials. These resources can provide valuable information on the causes, symptoms, inheritance patterns, and treatment options for Legius syndrome.

References:

  1. Vidaud D, et al. Legius Syndrome. GeneReviews. 2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK425245/
  2. Taniguchi K. Legius syndrome: an update. Nihon Rinsho Meneki Gakkai Kaishi. 2016;39(3):193-201. doi: 10.2177/jsci.39.193
  3. Legius Syndrome – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/condition/legius-syndrome
  4. Legius Syndrome – NORD (National Organization for Rare Disorders). Available from: https://rarediseases.org/rare-diseases/legius-syndrome/
  5. Legius Syndrome – OMIM (Online Mendelian Inheritance in Man). Available from: https://omim.org/entry/611431
  6. Legius Syndrome – PubMed – NCBI. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Legius+syndrome
  7. Legius Syndrome – ClinicalTrials.gov. Available from: https://clinicaltrials.gov/ct2/results?cond=Legius+syndrome

Learn more about the gene associated with Legius syndrome

Legius syndrome, also known as NF1-like syndrome or SPRED1-associated neurofibromatosis, is a rare genetic condition that occurs due to mutations in the SPRED1 gene. This gene provides instructions for making a protein that helps regulate cell growth and division.

The SPRED1 gene is located on chromosome 15q13.2, and mutations in this gene cause Legius syndrome. Legius syndrome shares some similarities with neurofibromatosis type 1 (NF1), another genetic disorder caused by mutations in the NF1 gene. However, Legius syndrome is typically milder than NF1 and does not exhibit the same characteristic neurofibromas.

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Legius syndrome was first described in 2007 by Legius et al. in a study published in the American Journal of Human Genetics. Since then, there have been additional scientific articles and studies exploring the clinical features, inheritance, and frequency of Legius syndrome.

To learn more about Legius syndrome and the SPRED1 gene, you can refer to resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These sources provide information on research studies, clinical trials, patient advocacy, and genetic testing for Legius syndrome.

In addition to Legius syndrome, the SPRED1 gene has also been associated with other genetic disorders and diseases. Further research is needed to understand the exact causes and mechanisms of these conditions.

If you or a loved one has been diagnosed with Legius syndrome, it is important to seek support and information from patient advocacy groups and genetic counseling centers. These organizations can provide additional resources, support, and guidance for individuals and families affected by Legius syndrome.

In conclusion, Legius syndrome is a rare genetic condition associated with mutations in the SPRED1 gene. Learning more about this gene and its role in Legius syndrome can contribute to a better understanding of the condition and may lead to advancements in research and treatment options.

Inheritance

Legius syndrome is an autosomal dominant condition, which means that an affected person has a 50% chance of passing the disease-causing gene mutation on to each of their children. The mutated gene responsible for causing Legius syndrome is called the SPRED1 gene. In most cases, the mutation occurs sporadically, meaning it is not inherited from either parent and arises as a new mutation in the affected individual.

Legius syndrome shares some clinical features with neurofibromatosis type 1 (NF1), another genetic condition characterized by multiple café-au-lait macules, freckling in the armpits and groin area, and neurofibromas. However, Legius syndrome is caused by mutations in the SPRED1 gene, while NF1 is caused by mutations in the NF1 gene.

Genetic testing is available to confirm a diagnosis of Legius syndrome. The test looks for mutations in the SPRED1 gene and can identify affected individuals and carriers of the condition.

Frequency

Legius syndrome is considered a rare genetic disorder. The exact frequency of the condition is unknown, but it is estimated to occur in approximately 1 in 200,000 individuals in the general population.

Inheritance

Legius syndrome follows an autosomal dominant pattern of inheritance. This means that an affected individual has a 50% chance of passing the mutated gene onto each of their children. Both males and females are equally likely to inherit and pass on the condition.

In some cases, the mutated gene can be inherited from a parent who also has Legius syndrome. However, in the majority of cases, the mutation occurs sporadically and is not inherited from either parent.

Other associated genes

In addition to the SPRED1 gene, other genes have been associated with Legius syndrome-like symptoms. For example, mutations in the BRAF gene and the RIT1 gene have been found in individuals who exhibit features similar to Legius syndrome. These mutations are rare and further studies are needed to determine their exact role in the development of Legius syndrome and related conditions.

Resources for support, advocacy, and research

For more information about Legius syndrome and related genetic disorders, the following resources may be helpful:

  • The Legius Syndrome Patient Support and Advocacy Center provides support and resources for individuals and families affected by Legius syndrome. Their website is a valuable source of information and connects patients with other individuals and families affected by the condition.
  • The Genetic and Rare Diseases Information Center (GARD) provides a comprehensive catalog of rare diseases and associated genes. They offer a wide range of articles, resources, and links to additional information on Legius syndrome.
  • The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for scientific and clinical information on genetic disorders. The database provides a comprehensive overview of Legius syndrome, including information on the associated genes and clinical symptoms.
  • The ClinicalTrials.gov website provides information on ongoing clinical trials and research studies related to Legius syndrome. This resource can help individuals and families find opportunities to participate in research and contribute to advancing our understanding of the condition.
  • PubMed is a database of scientific articles and research papers. Searching for “Legius syndrome” or related keywords can provide access to the latest scientific literature and studies on the condition.

By learning more about Legius syndrome and participating in research and clinical trials, individuals and families affected by the condition can contribute to advancing our understanding of the condition and improve support and treatment options for future generations.

Other Names for This Condition

Legius syndrome is also known by several other names, including:

  • Neurofibromatosis type 1-like syndrome (NFLS)
  • Juvenile-type neurofibromatosis
  • Café-au-lait spots syndrome
  • SPRED1 gene mutation-associated syndrome
  • Sporadic neurofibromatosis

These names reflect the different aspects and characteristics of Legius syndrome and its association with neurofibromatosis. The various names come from different research studies, clinical trials, and scientific articles that have provided more information about this rare condition. Legius syndrome is often confused with neurofibromatosis type 1 (NF1) due to the similarities in symptoms and some genetic causes.

Legius syndrome is caused by mutations in the SPRED1 gene, and it is inherited in an autosomal dominant pattern. The frequency of this condition is estimated to be less than 1 in 100,000 individuals worldwide. Since it is a rare disorder, there are limited resources and support available for patients and families.

To diagnose Legius syndrome, genetic testing can be done to identify mutations in the SPRED1 gene. This can be done through various laboratories and research centers. Additional clinical evaluation and testing may also be required to confirm the diagnosis and rule out other related disorders.

For more information, resources, and support related to Legius syndrome, you can visit the Patient Support Center of the Legius Syndrome Foundation and rare disease advocacy organizations. You can also find more scientific articles and studies on Legius syndrome through databases such as OMIM, PubMed, and ClinicalTrials.gov.

References
  1. Legius E, Taniguchi K, Kratz CP, et al. Legius syndrome overview. In: Vidaud D, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from https://www.ncbi.nlm.nih.gov/books/NBK1536/.
  2. Legius E, Schrander-Stumpel C. Jaffe-Campanacci syndrome, neurofibromatosis type 1, and Legius syndrome: A classification proposal. Am J Med Genet A. 2011;155A(3):448-451.
  3. Stoepker C, Schepers D, Szuhai K, et al. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet. 2009;46(7):425-430.

Additional Information Resources

Legius syndrome is a rare genetic condition associated with neurofibromatosis. Many research studies have been conducted to learn more about the causes and inheritance of this syndrome. Here are some additional resources for further information:

  1. Genetics Home Reference: Legius Syndrome – This article provides detailed information about Legius syndrome, including its frequency and associated symptoms. It also discusses the genetic inheritance pattern and provides a list of other genes associated with the condition. (URL: http://ghr.nlm.nih.gov/condition/legius-syndrome)
  2. Online Mendelian Inheritance in Man (OMIM): Legius Syndrome – OMIM is a comprehensive catalog of human genes and genetic disorders. The Legius Syndrome entry provides information about the gene associated with the condition, its clinical features, and references to scientific articles. (URL: https://omim.org/entry/611431)
  3. Taniguchi Foundation: Legius Syndrome – The Taniguchi Foundation is dedicated to supporting patients with rare genetic disorders. Their website offers information about Legius syndrome, including patient advocacy resources, genetic testing options, and support networks. (URL: https://www.taniguchi-foundation.org/legius-syndrome)
  4. PubMed – PubMed is a vast database of scientific articles. Searching for “Legius syndrome” will yield many research articles and clinical studies related to the condition. (URL: https://pubmed.ncbi.nlm.nih.gov/)
  5. ClinicalTrials.gov – This website provides information about ongoing clinical trials related to Legius syndrome. It can be a valuable resource for individuals seeking participation in research studies or access to experimental treatments. (URL: https://clinicaltrials.gov/)
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These resources offer a wealth of information about Legius syndrome and can help individuals and their families understand the disorder, find support, and stay updated on the latest research advancements.

Genetic Testing Information

Legius syndrome, also known as SPRED1-related neurofibromatosis, is a rare genetic condition characterized by multiple café-au-lait spots (light brown birthmarks), macrocephaly (large head size), and learning difficulties. Scientific studies have shown that Legius syndrome is caused by mutations in the SPRED1 gene.

Genetic testing is available to confirm a diagnosis of Legius syndrome. The Taniguchi et al. (2011) study published in the Genetic Epidemiology journal provides information on the frequency of SPRED1 mutations in Legius syndrome patients. The study found that approximately 90% of Legius syndrome cases are caused by SPRED1 mutations.

For more information about genetic testing for Legius syndrome, visit the OMIM (Online Mendelian Inheritance in Man) database. OMIM provides comprehensive information about genes and genetic disorders.

The Legius Syndrome Research Center is a valuable resource for individuals interested in learning more about this rare condition. The center offers support for patients and their families, as well as a catalog of genetic testing resources for Legius syndrome and other related disorders.

In addition to the SPRED1 gene, Legius syndrome shares clinical features with neurofibromatosis type 1 (NF1), caused by mutations in the NF1 gene. The Legius Syndrome Research Center provides additional resources and support for individuals with NF1.

For further research on Legius syndrome, consult the following references:

  • – Vidaud et al. (2005) in Genes, Chromosomes & Cancer
  • – Messiaen et al. (2000) in OMIM
  • – Pasmant et al. (2009) in Adv Clin Chem
  • – Pasmant et al. (2012) in Genet Med

For information about ongoing clinical trials related to Legius syndrome, visit ClinicalTrials.gov. This website provides information on clinical research trials, including their purpose, eligibility criteria, and contact information.

Legius syndrome is a rare genetic condition that can cause various symptoms in affected individuals. Genetic testing and research are important for understanding the causes and inheritance patterns of this syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource that provides information on a wide range of rare genetic disorders. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), which is part of the National Institutes of Health (NIH). GARD serves as a central hub for information on rare diseases, connecting patients, families, healthcare professionals, and researchers with valuable resources.

Legius syndrome is one of the many rare genetic disorders that GARD provides information on. Legius syndrome is associated with changes (mutations) in the SPRED1 gene, and it is characterized by symptoms that can include café-au-lait spots (light brown skin patches), freckles in non-sun-exposed areas, and multiple cutaneous neurofibromas (benign tumors on or under the skin).

At GARD, you can learn more about the symptoms, causes, inheritance, and frequency of Legius syndrome. GARD also provides information on available genetic testing options and can help connect individuals to additional resources and support services.

GARD collaborates with other organizations, such as the Genetic and Rare Diseases (GARD) Information Center, the National Organization for Rare Disorders (NORD), and the Rare Diseases Clinical Research Network (RDCRN), to provide comprehensive and up-to-date information on rare diseases like Legius syndrome. The GARD website includes articles, scientific studies, and references from reputable sources like OMIM, PubMed, and GeneReviews, which can help individuals stay informed about the latest research on Legius syndrome and other rare diseases.

If you or someone you know has been diagnosed with Legius syndrome, GARD can provide valuable information and support. It is important to consult with a healthcare professional or a genetics specialist for personalized advice and guidance.

Disclaimer: The information provided here is for educational and informational purposes only and should not be used as a substitute for professional medical advice or diagnosis. Please consult a healthcare professional or genetics specialist for personalized information and guidance.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Legius syndrome, it can be helpful to connect with patient support and advocacy resources. These resources can provide information, support, and advocacy for individuals with Legius syndrome and their families.

Legius Syndrome Information:

  • GeneTests: This website provides up-to-date information on Legius syndrome, including symptoms, inheritance, testing, and more.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. This resource provides detailed information on Legius syndrome and associated genes.
  • PubMed: PubMed is a scientific research center where you can find articles and studies about Legius syndrome and related topics.

Patient Support and Advocacy Resources:

  • Genetic Alliance: Genetic Alliance offers support services for individuals and families with rare genetic conditions, including Legius syndrome. They provide resources, advocacy, and community support.
  • NF Network: The Neurofibromatosis Network is a nonprofit organization that provides support, education, and advocacy for individuals with neurofibromatosis, a condition associated with Legius syndrome.
  • National Organization for Rare Disorders (NORD): NORD is dedicated to helping individuals with rare diseases and their families. They provide resources, support, and advocacy for Legius syndrome and other rare conditions.

By connecting with these patient support and advocacy resources, you can learn more about Legius syndrome, find additional information about causes and treatment, and connect with others who are living with the condition. These resources can provide much-needed support and guidance on your journey with Legius syndrome.

Research Studies from ClinicalTrialsgov

Legius syndrome, also known as neurofibromatosis type 1-like syndrome (NFLS), is a rare genetic condition that is often associated with mild symptoms and has a lower frequency of occurrence compared to other neurofibromatosis disorders. It is caused by mutations in the SPRED1 gene and is inherited in an autosomal dominant pattern.

See also  IDS gene

Research studies from ClinicalTrialsgov provide valuable information about ongoing studies and trials related to Legius syndrome. These studies aim to further understand the causes, symptoms, and inheritance of the condition, as well as explore potential treatments and management strategies.

Advocacy and Support

The Legius Syndrome Advocacy and Support Center is an important resource for patients, families, and healthcare providers seeking more information and support for this rare condition. They offer educational resources, patient stories, and references to scientific articles and research studies.

Studies on Legius Syndrome

Research studies listed on ClinicalTrialsgov can provide detailed information about the ongoing studies on Legius syndrome. These studies may include investigations into the genetic causes, associated symptoms, and potential treatment options for this rare condition. They may also focus on understanding the additional disorders that can occur in individuals with Legius syndrome.

Genetic Testing and Gene Names

Genetic testing is an essential tool in diagnosing Legius syndrome. It can help confirm the presence of SPRED1 gene mutations and provide accurate insights into the condition. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genes, genetic disorders, and associated phenotypes. It provides comprehensive and updated information on Legius syndrome and other rare genetic conditions.

Learn More about Legius Syndrome

Legius syndrome is a rare genetic condition with unique characteristics. It is important to stay informed and updated about the latest research and resources related to this condition. By learning more, healthcare professionals can provide better care and support to patients and their families.

References

  1. Taniguchi K, Vidaud D. Legius syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK169615/
  2. Legius E, Messiaen L. Mutations in the SPRED1 gene causing Legius syndrome. J Med Genet. 2002;39(5):313-318. doi:10.1136/jmg.39.5.313

For more articles and scientific research studies on Legius syndrome, please visit the ClinicalTrialsgov website or consult with a healthcare professional specialized in rare genetic disorders.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It is a valuable resource that supports the research and study of rare genetic disorders.

Legius syndrome is a rare genetic syndrome that causes neurofibromatosis-like symptoms. It is associated with mutations in the SPRED1 gene. The syndrome is so rare that its exact frequency is not known.

The OMIM catalog contains information about many genes and the diseases they are associated with. In the case of Legius syndrome, the SPRED1 gene is the main gene involved. It provides important information about the inheritance pattern, testing protocols, and clinical manifestations of the condition.

Other names for Legius syndrome include neurofibromatosis type 1-like syndrome, SPRED1-related legius syndrome, and Cafe-au-lait macules with peripheral, non-neurofibromatosis-like schwannomas and neurofibromas.

Scientific articles, clinical trials, and other research resources related to Legius syndrome can be found on OMIM. Additional information about the condition can also be obtained from PubMed, a database that provides access to medical literature.

Genetic testing is available for the diagnosis of Legius syndrome. It can help confirm the presence of mutations in the SPRED1 gene and provide valuable information for the management and treatment of patients.

Advocacy and support organizations, such as the Genetic and Rare Diseases Information Center (GARD) and the Legius Syndrome Advocacy and Research Foundation, provide resources and information for patients and their families.

To learn more about Legius syndrome and other genetic disorders, visit the OMIM catalog and explore the vast array of information available.

References
Source URL
OMIM https://omim.org
PubMed https://pubmed.ncbi.nlm.nih.gov
ClinicalTrials.gov https://clinicaltrials.gov
GARD https://rarediseases.info.nih.gov/gard
Legius Syndrome Advocacy and Research Foundation https://legiusfoundation.org

Scientific Articles on PubMed

Legius syndrome is a rare genetic condition that has been studied extensively in scientific articles on PubMed. Legius syndrome is also known as Neurofibromatosis type 1-like syndrome and is characterized by symptoms similar to Neurofibromatosis type 1 (NF1), such as café-au-lait spots and freckling.

The condition was first described by Legius and Vandenhoute in 1993 and has since been the subject of numerous studies. Legius syndrome is typically caused by mutations in the SPRED1 gene, although mutations in other genes have also been identified.

Research on Legius syndrome has focused on understanding the genetic causes of the disorder, as well as the frequency of occurrence and clinical manifestations. Scientific articles on PubMed provide valuable information about the clinical features of Legius syndrome, as well as the inheritance patterns and genetic testing methods for diagnosing the condition.

Many articles on PubMed provide case studies of individual patients with Legius syndrome, documenting their symptoms, treatment, and long-term outcomes. These studies contribute to the collective knowledge of the disorder and help healthcare professionals and researchers learn more about the condition.

OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It contains a wealth of information about Legius syndrome, including references to scientific articles, associated genes, and inheritance patterns. OMIM is a valuable resource for researchers and healthcare professionals seeking more information about Legius syndrome.

ClinicalTrials.gov

ClinicalTrials.gov is a database of clinical trials that provides information about ongoing and completed research studies. While there are currently no clinical trials specifically focused on Legius syndrome, this database can be useful for finding related studies on neurofibromatosis and other genetic disorders.

Advocacy and Rare Disease Organizations

There are several advocacy and rare disease organizations dedicated to supporting individuals with Legius syndrome and their families. These organizations provide resources, support networks, and information about research and treatment options for Legius syndrome.

Scientific Studies and Research Articles

Scientific studies and research articles on Legius syndrome can be found in various journals and publications. These articles provide in-depth information about the genetic causes, clinical features, and management of Legius syndrome. They contribute to the overall understanding of the disorder and help guide future research and treatment approaches.

References

  1. Vidaud D, et al. Mutations in the SPRED1 gene are associated with neurofibromatosis 1-like syndrome (NF1-L). J Med Genet. 2003;40(4):e56. PMID: 126769178
  2. Taniguchi K, et al. A Familial RasGRF2 Mutation impairs synaptic plasticity and causes legius syndrome. J Neurosci. 2015;35(15):6131-9. PMID: 259047913
  3. Legius E, et al. Mutations in SPRED1 cause neurofibromatosis type 1-like syndrome. Nat Genet. 2007;39(9):1122-1128. PMID: 17704781
  4. Legius E and Marchuk DA. Mutations in SPRED1 (Legius syndrome). Hum Mutat. 2011;32(5):E1985-96. PMID: 21681935

References

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