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Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

31 Mar 2022

Abstract excerpt

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous studies have associated sequence variants of PAX8, TBX6, GEN1, WNT4, WNT9B, BMP4, BMP7, HOXA10, EMX2, LHX1, GREB1L, LAMC1, and other genes with MRKH syndrome. The purpose of this study was to identify the...

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PMID: 35361250
DOI: 10.1186/s40246-022-00385-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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