Whole-genome and whole-exome sequencing of Mayer-Rokitansky-Küster-Hauser syndrome-discordant monozygotic twins
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Purpose: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), characterized by congenital uterine and vaginal aplasia, lacks definitive etiology. Discordant monozygotic (MZ) twins provide a unique model to dissect postzygotic driver... ...