A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

    August 2004 in “ Journal of Investigative Dermatology ”
    Celia Moss, Amalia Martı́nez-Mir, HaMut Lam … Ana Kljuic
    Studysummary A gene deletion in DSG4 causes sparse hair in some Pakistani families.
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    Research cited in this study 2

    1. The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene Genomics · 2004
    2. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998