Mayer-Rokitansky-Kuster-Hauser Syndrome and 16p11.2 Recurrent Microdeletion: a case report and review of the literature.
Journal of Pediatric and Adolescent Gynecology(2018)
摘要
Our purpose is to underscore the possible presence of gynecological malformations in patients with 16p11.2 microdeletion and highlight the utility of a genetic evaluation in cases of Mayer-Rokitansky-Kuster-Hauser syndrome.
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关键词
16p11.2 microdeletion,Mayer–Rokitansky–Küster–Hauser syndrome,MRKH syndrome,Müllerian aplasia
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