相关实验视频

Updated: Mar 10, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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通过针对性下一代测序进行临床表征和分子分析,在一个大型印度队列中,有46个XY性别发育差异,通过针对性下一代测序进行临床表征和分子分析

Vandana Jain1, Sukanya Priyadarshini1, Rajni Sharma1

  • 1Division of Pediatric Endocrinology, All India Institute of Medical Sciences, New Delhi, India.

Clinical endocrinology
|March 8, 2026
PubMed
概括

基因检测在46%的印度儿童中发现了分子诊断,这些儿童在性别发育 (DSD) 中有46,XY差异. 类固醇酶SRD5A2,雄激素受体 (AR) 和NR5A1基因在这些DSD病例中最常见.

关键词:
这就是DSD DSD.没有NGS,没有NGS.在NR5A1中,外基因组测序是指外基因组的测序.发生性腺失调的发生.有针对性的面板.丸激素生物合成缺陷

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