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Updated: Jan 8, 2026

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现型变异性和CHD8变异的父继承导致自闭症和大脑发育障碍的智力发育障碍,由表观遗传和结构分析证实.

Yutaka Furuta1, Kimberly M Ezell1, Rizwan Hamid1

  • 1Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

Molecular genetics & genomic medicine
|December 17, 2025
PubMed
概括

自闭症和大脑症的智力发育障碍 (IDDAM) 可能是由遗传的CHD8变体引起的. 表观遗传和结构分析有助于确认不确定的变异的致病性,帮助诊断.

关键词:
在CHD8中使用.表观遗传学是指表观遗传学.自闭症和大脑症的智力发展障碍 (IDDAM)现型变异性的变化.

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