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DNA‐based prenatal diagnosis of plectin‐deficient epidermolysis bullosa simplex associated with pyloric atresia

Background  Mutations in the plectin gene (PLEC) generally lead to epidermolysis bullosa simplex (EBS) associated with muscular dystrophy. It has been recently demonstrated that PLEC mutations can also cause a different clinical subtype, EBS associated with pyloric atresia (EBS‐PA), which shows early lethality. Prenatal diagnosis (PND) of EBS‐PA using mutation screening of PLEC has not been described.