CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation

    June 2017 in “ American journal of ophthalmology. Case reports ”
    Ömer Kartı, Saygın Abalı, Zi̇ya Ayhan … Ali Osman Saatçi
    Studysummary This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on sciencedirect.com →
    Discuss this study in the Community →

    Research cited in this study 6

    1. To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders Seminars in Cell & Developmental Biology · 2013
    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 5

    1. Hypotrichosis With Juvenile Macular Dystrophy in Saudi Arabia: A Case Report Skin Appendage Disorders · 2020
    2. New CDH3 Mutation in the First Spanish Case of Hypotrichosis with Juvenile Macular Dystrophy: A Case Report BMC Medical Genetics · 2017
    3. Hypotrichosis With Juvenile Macular Dystrophy: A Case Report With Molecular Study Arquivos Brasileiros de Oftalmologia · 2017
    4. Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy Archives of Ophthalmology · 2012
    5. Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings British journal of dermatology/British journal of dermatology, Supplement · 2005