Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family

    Fozia Fozia, Khadim Shah, Rubina Nazli, Sher Alam Khan, Ijaz Ahmad, Nur Farahiyah Mohammad, Sher Alam Khan, Amal Alotaibi
    Studysummary This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
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