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Updated: Jun 3, 2025

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
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对具有46,XY性别发育差异的个体中SRY变异的功能分析

Firman P Idris1, Jocelyn van den Bergen2, Gorjana Robevska2

  • 1Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia.

Molecular and cellular endocrinology
|January 9, 2025
PubMed
概括

在46例XY性别发育差异 (DSD) 病例中分析性别决定性-区域-Y (SRY) 基因变异,揭示了影响男性发育的三种致病变异. 这项研究澄清了SRY突变对改善诊断的功能后果.

关键词:
性发育的差异性发展的差异.功能分析是一种功能分析.遗传变异是一种遗传变异.斯洛伐克斯洛伐克斯洛伐克共和国

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