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  1. Article

    Open Access

    Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

    The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 ...

    A. Hammarsjö, Z. Wang, R. Vaz, F. Taylan, M. Sedghi, K. M. Girisha… in Scientific Reports (2017)

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