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Updated: Jul 16, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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Published on: February 21, 2015

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短身外体测序和染色体微阵列的分子诊断产量:系统性审查和元分析

Qing Li1,2,3, Zefu Chen1,2,3,4, Jie Wang1,2,3

  • 1Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences; Beijing, 100730, China.

JAMA pediatrics
|September 11, 2023
PubMed
概括

外体序列测定 (ES) 显示出27.1%的诊断产量,而染色体微阵列分析 (CMA) 显示出矮身的13.6%. 这些基因测试为身高矮的患者提供了显著的诊断效果.

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