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Article

The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors.

The Yale journal of biology and medicine - 1 Dec 2021

Kyei-Barffour Isaac, Margetts Miranda, Vash-Margita Alla, Pelosi Emanuele

Abstract excerpt

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder caused by Müllerian ducts dysgenesis affecting 1 in 5000 women with a typical 46,XX karyotype. The etiology of MRKH syndrome is complex and largely unexplained. Familial clustering suggests a genetic component and the spectrum of clinical presentations seems consistent with an inheritance pattern characterized by incomplete penetrance and variable...

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PMID: 34970104
PMCID: PMC8686787

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