Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings

    August 2005 in “ British journal of dermatology/British journal of dermatology, Supplement ”
    Margarita Indelman, Rina Leibu, A. Jammal … Eli Sprecher
    Studysummary This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
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    Research cited in this study 2

    1. Histopathology of Hypotrichosis with Juvenile Macular Dystrophy The American Journal of Dermatopathology · 2004
    2. Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Journal of Investigative Dermatology · 2003

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    5. A Novel Nonsense CDH3 Mutation in Hypotrichosis with Juvenile Macular Dystrophy International Journal of Dermatology · 2012
    6. Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings British journal of dermatology/British journal of dermatology, Supplement · 2005