Localized variant of junctional epidermolysis bullosa with R795X mutation

Localized variant of junctional epidermolysis bullosa with R795X mutation

Epidermolysis bullosa (EB) refers to a group of inherited disorders characterized by skin and mucous membrane fragility. This report presents the case of a 61-year-old Italian male with a localized variant of junctional epidermolysis bullosa (JEB) linked to the R795X mutation in the COL17A1 gene. Th...

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Bibliographic Details
Main Authors: Stefano Bighetti, Luca Bettolini, Sara Rovaris, Antonio Novelli, Paolo Incardona, Piergiacomo Calzavara-Pinton, Simone Caravello, Vincenzo Maione
Format: Article
Language:English
Published: PAGEPress Publications 2025-01-01
Series:Dermatology Reports
Subjects:
Epidermolysis bullosa
bullous disease
Online Access:https://www.pagepress.org/journals/dr/article/view/10127
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