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Updated: Jan 13, 2026

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46,XY性发育障碍的分子诊断:在单中心研究中,使用定制设计的向基因小组进行有效的初始分子分析

Sukran Poyrazoglu, Agharza Aghayev, Guven Toksoy

    Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
    |January 6, 2026
    PubMed
    概括

    下一代测序 (NGS) 改善了46,XY性发育障碍 (DSD) 的诊断. 这项研究在27.7%的患者中确定了致病变体,强调了NGS作为遗传评估的宝贵工具.

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