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[Genetic analysis of a Chinese pedigree with Cohen syndrome due to compound heterozygous variants of VPS13B gene].

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

Zhang Wenyu, Qi Na, Guo Liangjie, Wang Hongdan, Gao Yue, Hou Qiaofang, Lou Guiyu

Abstract excerpt

OBJECTIVE: To investigate the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Cohen syndrome. METHODS: A proband who was admitted to Zhengzhou People's Hospital on June 2, 2021 due to intellectual disability and developmental delay, in addition with her younger sister and other family members, were selected as the study subjects. Clinical data of the proband and her younger...

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PMID: 37532496
DOI: 10.3760/cma.j.cn511374-20220801-00510

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