[Analysis of a child with autosomal dominant mental retardation type 40 due to variant of CHAMP1 gene].

Jinghan Xu,Jingjing Li,Zhihui Jiao,Gege Sun,Duo Chen,Xiangdong Kong,Li Wang

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2023）

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摘要

The heterozygous c.1908C>G (p.Y636*) variant of the CHAMP1 gene probably underlay the WRD40 in this child. Genetic testing should be considered for children featuring global developmental delay, mental retardation, hypertonia and facial dysmorphism.

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关键词

champ1 gene,mental retardation

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