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Article

Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome.

Reproductive biomedicine online - 1 Apr 2012

Ravel Celia, Bashamboo Anu, Bignon-Topalovic Joelle, Siffroi Jean-Pierre, McElreavey Ken, Darai Emile

Abstract excerpt

Müllerian agenesis, also termed the Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS) is a disorder with an incidence of approximately 1 in 4500 newborn girls. This study screened 12 patients with MRKHS for mutations in two genes, LAMC1 and DLGH1, involved in the development of Müllerian structures...

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Source

Identifiers

PMID: 22377151
DOI: 10.1016/j.rbmo.2011.12.008

Genes

LAMC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22377151-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome.PMID 22377151Read ↗

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Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. A case reportSemantic proximity Read ↗

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