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[Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome].

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

Zhao Dengzhi, Chu Yan, Yang Ke, Huo Xiaodong, Lei Xingxing, Yang Yanli, Zhang Chaoyang, Xiao Hai, Liao Shixiu

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome. METHODS: Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2....

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PMID: 36584995
DOI: 10.3760/cma.j.cn511374-20220122-00055

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