Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats

    August 2005 in “ Journal of Investigative Dermatology Symposium Proceedings ”
    Hisham Bazzi, Amalia Martı́nez-Mir, Ana Kljuic, Angela M. Christiano
    Studysummary This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.
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    Research cited in this study 3

    1. Intragenic Deletion in the Desmoglein 4 Gene Underlies the Skin Phenotype in the Iffa Credo Hairless Rat Differentiation · 2004
    2. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004
    3. The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene Genomics · 2004

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