Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families

Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families

Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive metabolic disorder caused by mutations in the CYP21A2 gene. Genetic diagnosis of 21-OH deficiency causing CAH is more complicated than any other monogenic disorder due to high variability of the locus. The disease has a wide spe...

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Bibliographic Details
Main Authors: Sarita Yadav, Shweta Birla, Eunice Marumudi, Arundhati Sharma, Rajesh Khadgawat, M L Khurana, A C Ammini
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2015-01-01
Series:Indian Journal of Endocrinology and Metabolism
Subjects:
Adrenal crisis
ambiguous genitalia
CYP21A2 gene mutations
female preponderance
precocious puberty
Online Access:http://www.ijem.in/article.asp?issn=2230-8210;year=2015;volume=19;issue=5;spage=644;epage=648;aulast=Yadav

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