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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Detalles Bibliográficos
Autores principales: Yadav, Sarita, Birla, Shweta, Marumudi, Eunice, Sharma, Arundhati, Khadgawat, Rajesh, Khurana, M. L., Ammini, A. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4566346/
https://www.ncbi.nlm.nih.gov/pubmed/26425475
http://dx.doi.org/10.4103/2230-8210.163191

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