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Article

Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction.

European journal of endocrinology - 1 Aug 2016

de Carvalho Daniel F, Miranda Mirela C, Gomes Larissa G, Madureira Guiomar, Marcondes José A M, Billerbeck Ana Elisa C, Rodrigues Andresa S, Presti Paula F, Kuperman Hilton, Damiani Durval, Mendonca Berenice B, Bachega Tania A S S

Abstract excerpt

BACKGROUND: Most congenital adrenal hyperplasia (CAH) patients carry CYP21A2 mutations derived from conversion events involving the pseudogene, and the remaining carry new mutations. OBJECTIVE: To review causal mutations and genotype-phenotype correlation in 480 Brazilian patients. METHODS: DNA was extracted from 158 salt-wasters (SWs), 116 simple virilizing (SV), and 206 nonclassical (NC) patients. Fourteen...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27185867
DOI: 10.1530/EJE-16-0171

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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