Associated Papers
Missense and Inframe Pathogenic Variants in PLEC Lead to Minimal or Delayed-Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype-Phenotype Correlation in Nine Cases.
Yang MC et al.
The Journal of Dermatology, 2025
Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex.
Natsuga K et al.
Human Mutation, 2017
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.
Kyrova J et al.
Journal of Dermatological Case Reports, 2016
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