A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report

    January 2018 in “ BMC dermatology
    Zoe Argyropoulou, Lu Liu, Linda Ozoemena, Cláudia C. Branco, R. Senra, Ângela Reis Rego, Luísa Mota-Vieira
    Studysummary This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
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