Article

Genome sequencing and transcriptome profiling in twins discordant for Mayer-Rokitansky-Küster-Hauser syndrome

2022-06-06

Abstract excerpt

<h4>Objective</h4> Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a rare congenital disease manifesting with aplasia or severe hypoplasia of uterine structures. Even though extensive studies have been performed, for the majority of cases the etiology remains unclear. In this study, we sought to identify genetic causes in discordant monozygotic (MZ) twins using genome sequencing of blood of both twins as well as...

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Literature Corpus work: 3b109c85-7ef4-5853-b0c1-812574c9d516
DOI: 10.1101/2022.06.01.22275812

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