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Updated: Feb 10, 2026

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临床外体测序作为一个关键的诊断工具:在双胞胎双胞胎中一种罕见的新生Trio变异

Hicham Bouchahta1,2, Maryem Sahli2, Nada Amllal3

  • 1Microbiology and Molecular Biology Team, Center of Plant and Microbial Biotechnology, Biodiversity and Environment, Faculty of Sciences, Mohammed V University in Rabat, Rabat, Morocco.

Molecular syndromology
|February 9, 2026
PubMed
概括

研究了双胞胎双胞胎中与TRIO相关的神经发育障碍. 临床外体序列测定确定了一种致病性TRIO基因变异,这表明这些罕见遗传疾病的父母中存在潜在的马赛克事件.

关键词:
临床外基因组测序 临床外基因组测序马赛主义 (Mosaicism) 是一个教派.这是一个TRIO基因基因.与 TRIO 相关的 NDD 是 TRIO 相关的 NDD.

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