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Updated: Jul 16, 2025

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在NR5A1中呈现为46,XY性别发展差异的新型变体

Yunting Yu1, Peter A Lee1,2, Lina Huerta-Saenz1,2

  • 1Penn State College of Medicine, Hershey, PA 17033, USA.

JCEM case reports
|September 18, 2023
PubMed
概括

这项案例研究突出了在患有46,XY性别发育差异 (DSD) 的患者中发现的一种新型NR5A1基因变异. 分子遗传测试对于诊断DSD和确定潜在的遗传原因至关重要.

关键词:
模两可的生殖器性发展的差异性发展的差异.

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