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Aarskog-Scott syndrome: a novel mutation in theFGD1gene associated with severe craniofacial dysplasia

✍ Scribed by Völter, Christiane; Martínez, Ramón; Hagen, Rudolf; Kress, Wolfram


Book ID
125347558
Publisher
Springer
Year
2014
Tongue
English
Weight
447 KB
Volume
173
Category
Article
ISSN
0340-6997

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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