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[Clinical and genetic analysis of two children with TANC2 gene variants and a literature review].

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

Chu Manman, Xu Dan, Xie Jiayang, Zhang Xiaoli, Wang Mengyue, Li Jialin, Ma Yichao, Li Xiaoli, Wang Junling, Jia Tianming

Abstract excerpt

OBJETIVE: To explore the clinical and genetic characteristics of two children with Neurodevelopmental disorders (NDDs) due to variants of TANC2 gene. METHODS: Clinical data of two children who were admitted to the Third Affiliated Hospital of Zhengzhou University respectively in April 2020 and April 2021 were retrospectively analyzed. Peripheral blood samples of the children and their parents were collected and...

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PMID: 39344613
DOI: 10.3760/cma.j.cn511374-20240313-00171

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