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[Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2020

Bai Zhouxian, Hu Shuang, Liu Ning, Wu Qinghua, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To identify pathogenic variants in two families with patients suspected for Joubert syndrome(UBST) by cerebellar vermis hypoplasia. METHODS: Clinical data and peripheral venous blood and skin tissue samples were collected for the extraction of genomic DNA. Potential variants were screened by using targeted capture and next generation sequencing. Suspected variants were validated by PCR and Sanger...

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Identifiers

PMID: 32335874
DOI: 10.3760/cma.j.issn.1003-9406.2020.05.004

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