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Updated: May 22, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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在自闭症谱系障碍中的临床和遗传发现,使用外基因组测序分析

Ana Blázquez1,2,3, Laia Rodriguez-Revenga4,5,6, María I Alvarez-Mora4,5,6

  • 1Department of Child and Adolescent Psychiatry and Psychology, Institute of Neuroscience, Hospital Clínic de Barcelona, Barcelona, Spain.

Frontiers in psychiatry
|March 12, 2025
PubMed
概括

外基因序列测序在10名自闭症谱系障碍 (ASD) 患者中发现了致病变体,这些患者对染色体微阵列分析呈阴性. 这种基因测试为复杂的神经发育障碍提供了扩展的诊断选择.

关键词:
自闭症谱系障碍 自闭症谱系障碍童年的童年 童年的童年异形特征 异形特征是指异形的特征.外基因组测序是指外基因组的测序.低血压症 (hypotonia) 是一种疾病.

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