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Updated: Jan 11, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在46XY性发育障碍的兄弟姐妹中鉴定了SRD5A2基因的罕见变异

Leena Rawal1, Deepak Panwar2,3, Ravinder Kumar1

  • 1Department of Clinical Cytogenomics, National Reference Laboratory, Dr. Lal PathLabs Ltd., Block E, Sector 18, Rohini, New Delhi 110085, India.

Case reports in genetics
|November 10, 2025
PubMed
概括

基因检测对于在46,XY个体中诊断性发育障碍 (DSD) 至关重要. 这项研究在患有DSD的兄弟姐妹中发现了一种致病性SRD5A2基因变异,强调了分子诊断的重要性.

关键词:
46,XY DSD 的使用情况模两可的生殖器卡里奥类型的形成.类固醇5α-减少酶2型缺乏症 (SRD5A2)整体外基因组测序的测序

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