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Zhongguo Dang Dai Er Ke Za Zhi. 2020 Jul 25; 22(7): 790–795.
PMCID: PMC7389620

Language: Chinese | English

SRD5A2 基因新型复合杂合突变致类固醇5-α还原酶2型缺乏症的遗传变异分析

Variant analysis on steroid 5-reductase type 2 deficiency caused by a novel SRD5A2 mutation

初 国铭

中国医科大学附属盛京医院临床遗传科, 辽宁 沈阳 110004, Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang 110004, China

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李 萍萍

中国医科大学附属盛京医院生殖医学中心, 辽宁 沈阳 110004

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常 文婧

中国医科大学附属盛京医院临床遗传科, 辽宁 沈阳 110004, Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang 110004, China

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何 蓉

中国医科大学附属盛京医院临床遗传科, 辽宁 沈阳 110004, Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang 110004, China

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赵 彦艳

中国医科大学附属盛京医院临床遗传科, 辽宁 沈阳 110004, Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang 110004, China 中国医科大学附属盛京医院临床遗传科, 辽宁 沈阳 110004, Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang 110004, China 中国医科大学附属盛京医院生殖医学中心, 辽宁 沈阳 110004