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Abstract
Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare, autosomal recessive form of epidermolysis bullosa characterized by mucocutaneous fragility, intestinal obstruction, and frequent urologic and renal abnormalities. The clinical course is typically lethal in the first few weeks of life, with an overall mortality of nearly 80%.1 Mutations in ITGB4, ITGA6, and PLEC1, which encode hemidesmosome components beta4 integrin, alpha6 integrin, and plectin, respectively, are most commonly implicated.
View details for DOI 10.1111/jdv.16153
View details for PubMedID 31851393