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[A novel splicing acceptor variant of the FBN2 gene contributes to a case of congenital contractural arachnodactyly].

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

Tan Xiaolan, Leng Xiangyou, Tao Dachang, Yang Yuan, Liu Yunqiang

Abstract excerpt

OBJECTIVE: To identify the pathogenic variants from a patient with suspected congenital contractural arachnodactyly, and to explore the possible molecular genetic pathogenesis, so as to provide evidence for clinical diagnosis. METHODS: Whole exome sequencing was performed for the patient. The splicing site variation of candidate pathogenic genes was verified by Sanger sequencing, and the new transcript sequence...

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PMID: 35598270
DOI: 10.3760/cma.j.cn511374-20210120-00062

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