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[Identification of TCTN1 gene variants in a fetus with Joubert syndrome 13].

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

Xiang Jingjing, Zhang Lili, Ding Yang, Wang Ting

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic basis for a fetus with Joubert syndrome. METHODS: A pregnant woman who had visited Suzhou Municipal Hospital on February 26, 2021 was selected as the study subject. The fetus and her parents were subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing. cDNA analysis of her father and RNA sequencing of her...

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PMID: 39097279
DOI: 10.3760/cma.j.cn511374-20230601-00331

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