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Updated: Feb 26, 2026

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非孤立的丹迪-沃克形:外体序列效率和表型扩展

Sarah Araji1,2, Xiaonan Zhao2,3, Jill A Rosenfeld2

  • 1Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.

Clinical genetics
|February 25, 2026
PubMed
概括

临床外体组序列测定 (cES) 为丹迪-沃克形加 (DWM+) 病例提供了高的诊断产量,识别了标准面板错过的遗传原因. 当初始分子诊断难以实现时,应该考虑这种方法.

关键词:
丹迪·沃克 (Dandy-Walker) 缺陷形成小脑小脑是什么意思外基因组测序是指外基因组的测序.基因面板基因面板现型扩张 现型扩张

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