Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

    Mohammad Almeqdadi, Jennifer L. Kemppainen, Pavel N. Pichurin, Ralitza H. Gavrilova
    Studysummary This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.
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