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Updated: Sep 19, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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基因组测序揭示了费兰-麦克德米德综合征中的其他发现

Rachel Gore Moses1, Morgan Similuk1, Alexandra Hehn2

  • 1Centralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
|June 16, 2025
PubMed
概括

在Phelan-McDermid综合征 (PMS) 中的基因组测序确定了一些患者神经症状的额外遗传原因. 这种扩展的测试可以解释PMS的症状变化,即使在那些具有典型特征的人中也是如此.

关键词:
菲兰 - 麦克德米德综合征双重诊断是一种双重的诊断.基因组测序是指对基因组进行测序.神经发育的神经发育

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