Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

    September 2021 in “ Frontiers in genetics ”
    Guangmin Chen, Ling Zhou, Qimou Chen … Huifang Zhou
    Studysummary This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
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    Research cited in this study 3

    1. 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
    2. Endocrine Disorders in Woodhouse-Sakati Syndrome: A Systematic Review of the Literature Journal of endocrinological investigation · 2014
    3. C2orf37 Mutational Spectrum in Woodhouse-Sakati Syndrome Patients Clinical genetics · 2010