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A novel mutation in a mother and a son with Aarskog-Scott syndrome

✍ Scribed by Altıncık, Ayça; Kaname, Tadashi; Demir, Korcan; Böber, Ece


Book ID
120657516
Publisher
Walter de Gruyter GmbH & Co. KG
Year
2013
Tongue
English
Weight
405 KB
Volume
26
Category
Article
ISSN
0334-018X

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## 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