Woodhouse-Sakati Syndrome: Genotype–Phenotype Review and Case of Intra-Familial Heterogeneity

    July 2024 in “ Journal of Rare Diseases ”
    Victor Wakim, Mohammad El Dassouki, Ahlam Azar … Gerard Wakim
    Studysummary This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
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    Research cited in this study 7

    1. Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene Frontiers in endocrinology · 2021
    2. Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family Journal of clinical laboratory analysis · 2021
    3. 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 American Journal of Medical Genetics Part A · 2021
    4. Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family Frontiers in genetics · 2021
    5. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome ˜The œAmerican journal of case reports · 2018
    6. Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature Journal of endocrinological investigation · 2014
    7. C2orf37 Mutational Spectrum in Woodhouse-Sakati Syndrome Patients Clinical genetics · 2010