Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14

    Anastasiya V. Kosykh, I.I. Ryumina, A.S. Botkina … Denis Rebrikov
    Studysummary In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.
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    Research cited in this study 1

    1. Melanoblasts' Proper Location and Timed Differentiation Depend on Notch/RBP-J Signaling in Postnatal Hair Follicles ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2008

    Related research 1

    1. Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility ˜The œJournal of clinical investigation/˜The œjournal of clinical investigation · 2009