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Updated: Mar 2, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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在四个无关的中国家庭中,对具有功能丧失POGZ变异的患者的转录组分析

Yong Wu1, Na Liang2, Fengyuan He3

  • 1Medical Research Institute, Shenzhen Baoan Women's and Children's Hospital, Shenzhen, China.

Gene
|February 28, 2026
PubMed
概括

这项研究确定了导致智力障碍 (ID) 和神经发育障碍 (NDD) 的新型POGZ基因变异. 这些发现扩大了我们对POGZ哈普洛缺陷在疾病发病过程中的理解.

关键词:
群组分析 群组分析神经发育障碍是一种神经发育障碍.波格兹 (POGZ) 是一个在RNA测序过程中,RNA测序怀特-萨顿综合征 (WHSUS) 是一种整体外因子测序 (WES) 测序

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