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Updated: May 8, 2025

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通过下一代测序扩大雄激素不敏感综合征的分子景观

Tadeusz Kałużewski1,2, Iwona Pinkier1, Urszula Wysocka1

  • 1Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, 93-338, Poland.

The application of clinical genetics
|December 26, 2024
PubMed
概括

雄激素不敏感综合征 (AIS) 是一种影响雄激素信号的遗传疾病. 这项研究确定了八种雄激素受体 (AR) 基因变异,包括两种新突变,改善了AIS诊断和管理.

关键词:
这就是AISIS.基因 AR 基因 AR 基因凯斯 (CAIS) 是一个没有NGS,没有NGS.雄激素不敏感综合征是什么受体基因是受体受体基因.完全的雄激素不敏感综合征.性发育障碍 性发育障碍这是下一代测序.

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