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[Diagnostic value of whole exome sequencing for patients with intellectual disability or global developmental delay].

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

Li Yangyan, Lei Dongzhu, Li Caiyun, Huang Dongqun, Tan Jufang, Zhang Haoqing

Abstract excerpt

OBJECTIVE: To assess the diagnostic value of whole exome sequencing (WES) for patients with intellectual disability (ID) or global developmental delay (GDD). METHODS: 134 individuals with ID or GDD who presented at Chenzhou First People's Hospital between May 2018 and December 2021 were selected as the study subjects. WES was carried out on peripheral blood samples of the patients and their parents, and candidate...

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PMID: 37211997
DOI: 10.3760/cma.j.cn511374-20220522-00345

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