Novel variant in the FGD1 gene causing Aarskog-Scott syndrome

Aarskog-Scott syndrome (ASS) is a rare, X-linked recessive inherited disorder. Affected individuals may develop short stature and exhibit distinctive skeletal and genital development. Mutations in the FYVE, rhogef and pleckstrin homology domain-containing protein 1 (FGD1) gene, located within the Xp...

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Detalles Bibliográficos
Autores principales: Ge, Yihua, Li, Niu, Wang, Zhigang, Wang, Jian, Cai, Haiqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5450764/
https://www.ncbi.nlm.nih.gov/pubmed/28587322
http://dx.doi.org/10.3892/etm.2017.4301

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5450764/
https://www.ncbi.nlm.nih.gov/pubmed/28587322
http://dx.doi.org/10.3892/etm.2017.4301

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