Hypotrichosis With Juvenile Macular Dystrophy

    Filipa Almeida, Rui Carneiro-Freitas, Regina Caldas, Ana Paula Vieira
    Studysummary This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.
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    Research cited in this study 4

    1. New CDH3 Mutation in the First Spanish Case of Hypotrichosis with Juvenile Macular Dystrophy: A Case Report BMC Medical Genetics · 2017
    2. Hypotrichosis With Juvenile Macular Dystrophy: A Case Report With Molecular Study Arquivos Brasileiros de Oftalmologia · 2017
    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

    Related research 5

    1. Hypotrichosis With Juvenile Macular Dystrophy in Saudi Arabia: A Case Report Skin Appendage Disorders · 2020
    2. Hypotrichosis With Juvenile Macular Dystrophy International Journal of Trichology · 2018
    3. CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation American journal of ophthalmology. Case reports · 2017
    4. Hypotrichosis With Juvenile Macular Dystrophy: A Case Report With Molecular Study Arquivos Brasileiros de Oftalmologia · 2017
    5. Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings British journal of dermatology/British journal of dermatology, Supplement · 2005