一个新型的SRD5A2功能丧失变体在一个中国儿童的5α-降解酶2型缺乏症

Peng Zhou1,2, Juanjuan Lyu1,2, Xiaomei Sun1,2

  • 1Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

概括

这项研究报告了在中国儿童中出现5α-减少酶2型 (5α-RD2) 缺乏症的新型遗传原因. 在SRD5A2基因中发现了一种新的复合异合体变异,导致性发育障碍 (DSD).

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