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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Detaylı Bibliyografya
Yayımlandı:Cold Spring Harb Mol Case Stud
Asıl Yazarlar: Griffin, Laurie Beth, Farley, Frances A., Antonellis, Anthony, Keegan, Catherine E.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Cold Spring Harbor Laboratory Press 2016
Konular:
Research Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4990810/
https://ncbi.nlm.nih.gov/pubmed/27551683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000943
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