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[Genetic analysis of a child with Charlevoix-Saguenay spastic ataxia due to variant of SACS gene].

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

Luo Huan, Chen Xiaolu, Rao Xueyi, Shen Yajun, Liu Jinfeng, Yang Zuozhen, Gan Jing

Abstract excerpt

OBJECTIVE: To explore the clinical feature and genetic variant of a child with autosomal recessive Charlevoix-Saguenay type spastic ataxia (ARSACS). METHODS: Clinical data of a child who was admitted to the West China Second Hospital of Sichuan University on April 30, 2021 was collected. Whole exome sequencing (WES) was carried out for the child and his parents. Candidate variants were verified by Sanger...

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PMID: 37102289
DOI: 10.3760/cma.j.cn511374-20220724-00489

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