A novel FGD1 mutation in a family with Aarskog–Scott syndrome and predominant features of congenital joint contractures

Mutations in FGD1 cause Aarskog–Scott syndrome (AAS), an X-linked condition characterized by abnormal facial, skeletal, and genital development due to abnormal embryonic morphogenesis and skeletal formation. Here we report a novel FGD1 mutation in a family with atypical features of AAS, specifically...

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Detalles Bibliográficos
Autores principales: Griffin, Laurie Beth, Farley, Frances A., Antonellis, Anthony, Keegan, Catherine E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990810/
https://www.ncbi.nlm.nih.gov/pubmed/27551683
http://dx.doi.org/10.1101/mcs.a000943

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990810/
https://www.ncbi.nlm.nih.gov/pubmed/27551683
http://dx.doi.org/10.1101/mcs.a000943

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