Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy

    Yunqing Ren, Jipeng Liu, Dianyi Yao … Dianhe Yu
    Studysummary This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
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    Research cited in this study 2

    1. Functional Hair Follicle Regeneration: An Updated Review Signal Transduction and Targeted Therapy · 2021
    2. Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy JAMA Ophthalmology · 2016

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    4. Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy Archives of Ophthalmology · 2012
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