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Updated: May 7, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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基因负担测试涉及四种新型易感基因,与儿童患者的孤立矮身相关

Fei Xiao1, Ming-Yue Cai1, Bing-Yu Yang2

  • 1Department of Bioinformatics and Computational Biology, School of Life Sciences, Suzhou Medical College of Soochow University, Suzhou, China.

World journal of pediatrics : WJP
|March 3, 2026
PubMed
概括

罕见的遗传变异负担有助于特异性矮身 (ISS). 像OBSCN和FRAS1这样的关键基因以及激素生物合成和新陈代谢中的途径,都与生长失败有关.

关键词:
基因负担测试是基因负担测试.与增长相关的路径异常发病的矮身症患者.这是下一代测序.罕见的变种 罕见的变种

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