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    Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles

    August 2022 in “ Frontiers in genetics ”
    Khalid Al Hawsawi, Mazin Al Jabri, Mazen S. Dajam … Sultan Al‐Khenaizan
    Studysummary This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
    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 2

    1. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2020
    2. The Role of P-Cadherin in Skin Biology and Pathology: Lessons from the Hair Follicle Cell & tissue research/Cell and tissue research · 2015