Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules

    Iana Turcan, Anna M.G. Pasmooij, Antoni Gostyński … Marcel F. Jonkman
    Studysummary This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
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