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Junctional epidermolysis bullosa with pyloric atresia (PA‐JEB) is a rare congenital bullous disease with gastrointestinal disturbance that has been associated with mutations in ITGA6 or ITGB4 encoding the α6 or β4 subunit of integrin, respectively. Only six ITGA6 mutations in PA‐JEB have been reported while many ITGB4 mutations have been identified, and all the ITGA6 mutations were homozygous. Here,...
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