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  1. Article

    Open Access

    Variants in genes related to development of the urinary system are associated with Mayer–Rokitansky–Küster–Hauser syndrome

    Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous s...

    Chunfang Chu, Lin Li, Shenghui Li, Qi Zhou, ** Zheng, Yu-Di Zhang in Human Genomics (2022)