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Article

[Simple virilizing forms of congenital adrenal hyperplasia: adaptation and prospective validation of the molecular screening].

Medicina clinica - 10 Jul 2010

Santomé Collazo José Luis, Cirujano Segura Ana, Ferreiro Fernández Belén, Casado Fúnez Consolación, Muñoz-Pacheco Rafael, Ezquieta Zubicaray Begoña

Abstract excerpt

BACKGROUND AND OBJECTIVE: Congenital Adrenal Hyperplasia (CAH) is not an infrequent genetic disorder for which mutation-based analysis for CYP21A2 gene is a useful tool. Contrarily to salt-wasting forms the basic mutation screening accounts only for 83% of simple virilising (SV) phenotypes. Rare alleles with a local distribution not included in the basic panel may reduce its diagnostic accuracy. Our aim is to...

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PMID: 20171703
DOI: 10.1016/j.medcli.2009.11.039

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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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