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Severe hypocalcemia due to a de novo mutation in the fifth transmembrane domain of the calcium-sensing receptor

โœ Scribed by Stefano Mora; Ilaria Zamproni; Maria Carla Proverbio; Valentina Bozzetti; Giuseppe Chiumello; Giovanna Weber


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
160 KB
Volume
140A
Category
Article
ISSN
1552-4825

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## Abstract Aarskogโ€Scott syndrome (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, brachydactyly, and genital anomalies. The Xโ€linked form is caused by mutations of the __FGD1__ gene. Although clinical manifestations an