Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

    November 2003 in “ Journal of Investigative Dermatology ”
    Margarita Indelman, Christian Hamel, Reuven Bergman … Eli Sprecher
    Studysummary In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
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    1. Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy Archives of Ophthalmology · 2012
    2. Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Journal of Investigative Dermatology · 2003