New CDH3 Mutation in the First Spanish Case of Hypotrichosis with Juvenile Macular Dystrophy: A Case Report

    January 2017 in “ BMC Medical Genetics ”
    Fiona Blanco‐Kelly, Luciana Rodrigues-Jacy da Silva, Iker Sánchez‐Navarro … Carmen Ayuso
    Studysummary This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
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    Research cited in this study 6

    1. Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy JAMA Ophthalmology · 2016
    2. Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy Archives of Ophthalmology · 2012
    3. A Novel Nonsense CDH3 Mutation in Hypotrichosis with Juvenile Macular Dystrophy International Journal of Dermatology · 2012
    4. Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings British journal of dermatology/British journal of dermatology, Supplement · 2005
    5. Histopathology of Hypotrichosis with Juvenile Macular Dystrophy The American Journal of Dermatopathology · 2004
    6. Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Journal of Investigative Dermatology · 2003

    Related research 2

    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