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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2016
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| Materias: | |
| 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 |