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    A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome

    A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome by Sujie Xiong, Guangyao Hu, Yao Zhou, Fei Sun, Yanlin Ma

    Published 2025-01-01
    Subjects: “…Short-rib thoracic dysplasia 3 with or without polydactyly…”
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