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[Phenotype and genotype analysis of a pedigree affected with Joubert syndrome due to variant of TMEM237 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2021

Cui Shandan, Lou Haijuan, Yin Haijun, Geng Fangfang, Li Ning, Ma Lirong

Abstract excerpt

OBJECTIVE: To explore the pathogenesis of two siblings (including a fetus) from a pedigree affected with Joubert syndrome. METHODS: Peripheral blood samples of the proband and his parents as well as amniotic fluid and abortion tissues of the fetus were collected. Part of the samples were used for the extraction of DNA, and whole exome sequencing (WES) was carried out to screen potential variants in the proband...

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PMID: 34839509
DOI: 10.3760/cma.j.cn511374-20201015-00722

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