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Updated: Jun 30, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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在患有De Novo CHD8基因突变的儿童中,同时出现发育回归和神经认知衰退

Kyung Eun Paik1, GenaLynne C Mooneyham2

  • 1Department of Psychiatry & Behavioral Sciences, Duke University Hospital, Durham, North Carolina; Department of Child & Adolescent Psychiatry, Kennedy Krieger Institute & The Johns Hopkins School of Medicine, Baltimore, Maryland.

Pediatric neurology
|March 1, 2024
PubMed
概括

与CHD8基因突变相关的罕见自闭症谱系障碍 (ASD) 亚型可以导致青少年的严重回归和神经认知能力下降,即使在13岁之后. 这一案例凸显了进一步研究免疫失调作为潜在因素的必要性.

关键词:
自闭症谱系障碍 自闭症谱系障碍这是一种CHD8突变.卡塔托尼亚 (Catatonia) 是一个地区.发展回归的发展回归.自伤行为是自我伤害行为.

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