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Functional genomics analysis identifies loss ofHNF1Bfunction as a cause of Mayer–Rokitansky–Küster–Hauser syndrome

25 Oct 2022

Abstract excerpt

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterized by aplasia or hypoplasia of the uterus and vagina in women with a 46,XX karyotype. This condition can occur as type I when isolated or as type II when associated with extragenital anomalies including kidney and skeletal abnormalities. The genetic basis of MRKH syndrome remains unexplained and several candidate genes have been...

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PMID: 36282544
DOI: 10.1093/hmg/ddac262

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