Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India

BACKGROUND & OBJECTIVES: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related t...

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Detalhes bibliográficos
Publicado no:Indian J Med Res
Main Authors: Dubey, Sudhisha, Tardy, Veronique, Chowdhury, Madhumita Roy, Gupta, Neerja, Jain, Vandana, Deka, Deepika, Sharma, Pankaj, Morel, Yves, Kabra, Madhulika
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2017
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5501051/
https://ncbi.nlm.nih.gov/pubmed/28639595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijmr.IJMR_329_16
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