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[Genetic analysis of a child with Primary hypertrophic osteoarthropathy].

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

Wang Chen, Qiu Xueping, Cheng Yating, Li Boyu, Zhang Yuanzhen, Ma Jianhong, Zheng Fang

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child with Primary hypertrophic osteoarthropathy. METHODS: A child who was admitted to Zhongnan Hospital of Wuhan University on July 27, 2021 was selected as the study subject. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to whole exome sequencing. Suspected splicing variant was verified by Sanger sequencing of...

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PMID: 39217490
DOI: 10.3760/cma.j.cn511374-20230628-00400

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