90名发育迟缓的儿童的外体序列测序:一个单一中心的经验

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Oksana Boyarchuk1, Liubov Volianska1, Olena Smashna1

  • 1Department of Children's Diseases and Pediatric Surgery, I.Horbachevsky Ternopil National Medical University, Ternopil, Ukraine.

Frontiers in genetics
|December 16, 2024
PubMed
概括

整体外体测序 (WES) 确定了27.8%的儿童发育迟缓的遗传原因. 这种基因测试有助于对超过三分之一的患者进行诊断和管理计划的修订.

关键词:
在WES WES中,您可以使用自闭症谱系障碍 自闭症谱系障碍发育延迟的发展延迟.是一种.整体外基因组测序的测序

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