A Novel Homozygous Variant in the DSP Gene Underlies the First Case of Non-Syndromic Form of Alopecia

    July 2015 in “ Archives of Dermatological Research ”
    Abid Jan, Sulman Basit, Salma M. Wakil … Wasim Ahmad
    Studysummary This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
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    Research cited in this study 3

    1. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
    2. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    3. Alopecia Universalis Associated With a Mutation in the Human Hairless Gene Science · 1998