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Updated: Feb 6, 2026

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通过WES再分析确定一个患有MTSS2导致智力障碍的中国患者:一个病例报告

Duan Li1, Wen Zhang1, Huifen Mei1

  • 1Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, China.

Frontiers in psychiatry
|February 5, 2026
PubMed
概括

带有眼睛异常和独特面部特征的智力发育障碍 (IDDOF) 是一种罕见的遗传性疾病. 重新分析整个外基因组测序数据发现了一个新患者,并突出显示了一个特定的MTSS2基因变异作为潜在的热点.

关键词:
这就是MTSS1L基因.这就是MTSS2基因.在WES的重新分析中,智力障碍 智力障碍是一种智力障碍.整体外基因组测序的测序

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