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Article

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

European journal of medical genetics - 1 Apr 2020

Smol Thomas, Ribero-Karrouz Wassila, Edery Patrick, Gorduza Daniela Brindusa, Catteau-Jonard Sophie, Manouvrier-Hanu Sylvie, Ghoumid Jamal

Abstract excerpt

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare malformative disorder, characterized by congenital aplasia of the uterus and the upper two thirds of the vagina (MIM #277000). For a majority of patients, the disorder remained without identified genetic cause. However, four recurrent microdeletions, i.e. 1q21.1-16p11.2-17q12 and 22q11.21, as well as variants in genes contained in these loci, have been...

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PMID: 31731040
DOI: 10.1016/j.ejmg.2019.103812

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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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