Expanding on the Phenotypic Spectrum of Woodhouse-Sakati Syndrome Due to Founder Pathogenic Variant in DCAF17: Report of 58 Additional Patients from Qatar and Literature Review

    Rehab Ali, Nader Al‐Dewik, Shayma Mohammed … Tawfeg Ben‐Omran
    Studysummary This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.
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    Research cited in this study 4

    1. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome ˜The œAmerican journal of case reports · 2018
    2. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome Case reports in genetics · 2015
    3. Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature Journal of endocrinological investigation · 2014
    4. C2orf37 Mutational Spectrum in Woodhouse-Sakati Syndrome Patients Clinical genetics · 2010