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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2023

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

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic features of a child with autosomal dominant mental retardation type 40 (MRD40) due to variant of the CHAMP1 gene. METHODS: Clinical characteristics of the child were analyzed. Genetic testing was carried out by low-depth high-throughput and whole genome copy number variant sequencing (CNV-seq) and whole exome sequencing (WES). A literature review was also carried out...

Topics

Humans
Intellectual Disability
Genetic Testing
Phenotype
Exome Sequencing
Heterozygote
Mutation
Chromosomal Proteins, Non-Histone
Phosphoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36585000
DOI: 10.3760/cma.j.cn511374-20220517-00333

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