The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

    January 2015 in “ Case reports in genetics ”
    Molly B. Sheridan, Elizabeth Wohler, Denise Batista … Julie Hoover‐Fong
    Studysummary This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
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    Research cited in this study 2

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