A Novel Nonsense CDH3 Mutation in Hypotrichosis with Juvenile Macular Dystrophy

    February 2012 in “ International Journal of Dermatology ”
    Emily Avitan‐Hersh, Margarita Indelman, Ziyad Khamaysi … Reuven Bergman
    Studysummary This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
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    Research cited in this study 4

    1. Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings British journal of dermatology/British journal of dermatology, Supplement · 2005
    2. Genetic Hair and Nail Disorders Clinics in dermatology · 2005
    3. Histopathology of Hypotrichosis with Juvenile Macular Dystrophy The American Journal of Dermatopathology · 2004
    4. Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Journal of Investigative Dermatology · 2003