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Article

Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study.

Journal of applied genetics - 1 Jan 2010

Soardi F C, Coeli F Borchers, Maciel-Guerra A T, Guerra-Júnior G, Mello M Palandi de

Abstract excerpt

The SRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15-20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subf...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20453312
DOI: 10.1007/BF03195733

Genes

SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20453312-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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