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Article

Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.

Fertility and sterility - 1 Jul 2017

Williams Lacey S, Demir Eksi Durkadin, Shen Yiping, Lossie Amy C, Chorich Lynn P, Sullivan Megan E, Phillips John A, Erman Munire, Kim Hyung-Goo, Alper Ozgul M, Layman Lawrence C

Abstract excerpt

OBJECTIVE: To study the genetic cause of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). Although a few candidate genes and genomic domains for have been reported for MRKH, the genetic underpinnings remain largely unknown. Some of the top candidate genes are WNT4, HNF1B, and LHX1. The goals of this study were to: 1) determine the prevalence of WNT4, HNF1B, and LHX1 point mutations, as well as new copy number...

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Identifiers

PMID: 28600106
DOI: 10.1016/j.fertnstert.2017.05.017
PMCID: PMC5770980

Genes

LHX1
WNT4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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