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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...
Autores principales: | Dubey, Sudhisha, Tardy, Veronique, Chowdhury, Madhumita Roy, Gupta, Neerja, Jain, Vandana, Deka, Deepika, Sharma, Pankaj, Morel, Yves, Kabra, Madhulika |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501051/ https://www.ncbi.nlm.nih.gov/pubmed/28639595 http://dx.doi.org/10.4103/ijmr.IJMR_329_16 |
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