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)

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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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