The Embryological Landscape of Mayer-Rokitansky-Kuster-Hauser Syndrome: Genetics and Environmental Factors
Yale J Biol Med. 2021 Dec 29;94(4):657-672. eCollection 2021 Dec.ABSTRACTMayer-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 expressivity. Mutations of several candidate genes have been proposed as possible causes based on genetic analyses of human patients and animal ...
Source: The Yale Journal of Biology and Medicine - December 31, 2021 Category: Universities & Medical Training Authors: Isaac Kyei-Barffour Miranda Margetts Alla Vash-Margita Emanuele Pelosi Source Type: research
