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Functional genomics analysis identifies impairment of <i>HNF1B</i> function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome

2022-04-27

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 typical 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...

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Literature Corpus work: 627fc9aa-3ac9-5789-a491-1880bd08bc72
DOI: 10.1101/2022.04.26.489616

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