Hypotrichosis With Juvenile Macular Dystrophy in Saudi Arabia: A Case Report

    December 2020 in “ Skin Appendage Disorders ”
    Azhar Ahmed, Azhar Alali, Osama Alsharif, Adnan Ahmed Kaki
    Studysummary This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate 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
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    Research cited in this study 5

    1. Hypotrichosis With Juvenile Macular Dystrophy International Journal of Trichology · 2018
    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. Histopathology of Hypotrichosis with Juvenile Macular Dystrophy The American Journal of Dermatopathology · 2004
    5. Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Journal of Investigative Dermatology · 2003

    Related research 6

    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
    6. Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy Journal of Investigative Dermatology · 2003