Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy

    July 2016 in “ JAMA Ophthalmology ”
    Sarah Hull, Gavin Arno, Anthony G. Robson … Andrew R. Webster
    Studysummary This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
    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 jamanetwork.com →
    Discuss this study in the Community →

    Research cited in this study 4

    1. Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy Archives of Ophthalmology · 2012
    2. A Novel Nonsense CDH3 Mutation in Hypotrichosis with Juvenile Macular Dystrophy International Journal of Dermatology · 2012
    3. Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings British journal of dermatology/British journal of dermatology, Supplement · 2005
    4. 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. CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation American journal of ophthalmology. Case reports · 2017
    3. New CDH3 Mutation in the First Spanish Case of Hypotrichosis with Juvenile Macular Dystrophy: A Case Report BMC Medical Genetics · 2017
    4. Hypotrichosis With Juvenile Macular Dystrophy: A Case Report With Molecular Study Arquivos Brasileiros de Oftalmologia · 2017
    5. Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy Archives of Ophthalmology · 2012
    6. Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings British journal of dermatology/British journal of dermatology, Supplement · 2005