C2orf37 Mutational Spectrum in Woodhouse-Sakati Syndrome Patients

    April 2010 in “ Clinical genetics ”
    Anas M. Alazami, Susanne A. Schneider, Dominique Bonneau … Fowzan S. Alkuraya
    Studysummary This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
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