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Updated: Aug 8, 2026

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外体序列测序改善了先天性或面部裂的遗传诊断

Shujuan Yan1, Fang Fu1, Ru Li1

  • 1Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.

Frontiers in genetics
|September 25, 2023
PubMed
概括

外体测序 (ES) 显著改善了先天性口腔裂 (OFC) 的诊断,在11.2%的胎儿中确定了遗传原因. 这种基因测试增强了产前诊断,并扩大了对OFC相关基因的知识.

关键词:
裂口 (嘴唇和) 天.生产的或面部裂.外基因组测序是指外基因组的测序.基因诊断 基因诊断 基因诊断一个性变异的单一变异.

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