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Article

Sequence variants in ESR1 and OXTR are associated with Mayer-Rokitansky-Küster-Hauser syndrome.

Acta obstetricia et gynecologica Scandinavica - 1 Nov 2017

Brucker Sara Yvonne, Frank Liliane, Eisenbeis Simone, Henes Melanie, Wallwiener Diethelm, Riess Olaf, van Eijck Barbara, Schöller Dorit, Bonin Michael, Rall Kristin Katharina

Abstract excerpt

INTRODUCTION: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by congenital absence of the uterus and the upper two-thirds of the vagina in otherwise phenotypically normal females. It is found isolated or associated with renal, skeletal and other malformations. Despite ongoing research, the etiology is mainly unknown. For a long time, the hypothesis of deficient hormone receptors as the cause for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28815558
DOI: 10.1111/aogs.13202

Genes

ESR1
OXTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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