Localized Variant of Junctional Epidermolysis Bullosa With R795X Mutation

    January 2025 in “ Dermatology Reports
    Stefano Bighetti, Luca Bettolini, Sara Rovaris, Antonio Novelli, Paolo Incardona, Piergiacomo Calzavara‐Pinton, Simone Caravello, Vincenzo Maione
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    Studysummary This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
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