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A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia

✍ Scribed by Girgis, Rose; Ajamian, Faria; Metcalfe, Peter


Book ID
121085615
Publisher
Walter de Gruyter GmbH & Co. KG
Year
2013
Tongue
English
Weight
554 KB
Volume
26
Category
Article
ISSN
0334-018X

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Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating p