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Article

Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome.

Clinical genetics - 1 May 2016

Waschk D E J, Tewes A-C, Römer T, Hucke J, Kapczuk K, Schippert C, Hillemanns P, Wieacker P, Ledig S

Abstract excerpt

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a well-known malformation pattern of the Müllerian ducts (MDs) characterized by congenital absence of the uterus and vagina. To date, most cases remain unexplained at molecular level. As female Wnt9b-/- mice show a MRKHS-like phenotype, WNT9B has emerged as a promising candidate gene for this disease. We performed retrospective sequence analyses of WNT9B in 226...

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Source

Identifiers

PMID: 26610373
DOI: 10.1111/cge.12701

Genes

LHX1
TBX6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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