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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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| Publicado no: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2016
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| Assuntos: | |
| Acesso em linha: | 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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