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Article

A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.

The New England journal of medicine - 19 Aug 2004

Biason-Lauber Anna, Konrad Daniel, Navratil Francesca, Schoenle Eugen J

Abstract excerpt

WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress the biosynthesis of gonadal androgen in female mammals. An 18-year-old woman presented with primary amenorrhea and an absence of müllerian-derived structures, unilateral renal agenesis, and clinical signs...

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Source

Identifiers

PMID: 15317892
DOI: 10.1056/NEJMoa040533

Genes

WNT4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15317892-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.PMID 15317892Read ↗

WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report.Semantic proximity Read ↗

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Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Küster-Hauser syndrome.Semantic proximity Read ↗

Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women.Semantic proximity Read ↗

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Mutation analysis of WNT4 gene in SRY negative 46,XX DSD patients with Mullerian agenesis and/or gonadal dysgenesis- An Indian study.Semantic proximity Read ↗

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