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[Genetic analysis of two novel variants in a Chinese pedigree affected with intellectual disorder].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2024

Lyu Xiaoxiao, Xu Chenyang, Xu Yunzhi, Xiang Yanbao

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genetic characteristics of two siblings with intellectual disability. METHODS: Clinical data and peripheral blood samples were collected from the proband, his younger sister and parents whom had presented at Wenzhou Central Hospital in February 2024. Low-coverage massively parallel copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) were...

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PMID: 39653351
DOI: 10.3760/cma.j.cn511374-20240709-00381

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