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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Autores principales: Sarita Yadav, Shweta Birla, Eunice Marumudi, Arundhati Sharma, Rajesh Khadgawat, M L Khurana, A C Ammini
Formato: Artigo
Lenguaje:Inglês
Publicado: Wolters Kluwer Medknow Publications 2015-01-01
Colección:Indian Journal of Endocrinology and Metabolism
Materias:
Adrenal crisis
ambiguous genitalia
CYP21A2 gene mutations
female preponderance
precocious puberty
Acceso en línea: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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