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[Analysis of pathogenic gene variant in two children with Treacher-Collins syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2022

Wang Jie, Ji Xiaoping, Zhang Lichun, Xu Ruiting, Huang Yan, Liu Yaxian, Wu Liqiong, An Jin, Guo Zhiyuan, Wang Xiaohua

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of two children with a clinical diagnosis of Treacher Collins syndrome (TCS). METHODS: Whole-exome sequencing was used to screen potential variants in the two children. Confirmation of suspected variants was performed through Sanger sequencing, multiplex ligation dependent probe amplification and real-time PCR in probands and their parents. RESULTS: A...

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PMID: 35773768
DOI: 10.3760/cma.j.cn511374-20210205-00114

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