Unusually severe expression of craniofac
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A. Orrico; L. Galli; M.G. Obregon; M.F. de Castro Perez; M. Falciani; V. Sorrent
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Article
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2007
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John Wiley and Sons
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English
⚖ 228 KB
👁 2 views
## Abstract Aarskog‐Scott syndrome (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, brachydactyly, and genital anomalies. The X‐linked form is caused by mutations of the __FGD1__ gene. Although clinical manifestations an