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[Genetic analysis of a pedigree affected with Intellectual disability due to variants of two different genes].

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

Shi Tingting, Ren Zengguo, Yang Ke, Qin Litao, Lei Xingxing, Zhang Bing, Liao Shixiu, Wang Li

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a pedigree with intellectual disability and explore its pathogenesis. METHODS: A Chinese pedigree which had presented at the Henan Provincial People's Hospital in March 2023 was selected as the study subject. Clinical data of the pedigree were collected, along with peripheral venous blood samples from its members. Whole exome sequencing (WES) was carried out, and...

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PMID: 39528279
DOI: 10.3760/cma.j.cn511374-20240426-00257

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