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Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.
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Epidermolysis bullosa with pyloric atresia.
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Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review.
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Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.
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Phenotypic discordance between siblings with junctional epidermolysis bullosa-pyloric atresia.
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Pyloric atresia with epidermolysis bullosa: fetal MRI diagnosis with postnatal correlation.
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Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita.
Hsu CH, Tu WT, Chen PC, Yu-Yun Lee J, Hsu CK, Chiu TM.
J Dermatol. 2022 May;49(5):e154-e156. doi: 10.1111/1346-8138.16290. Epub 2022 Jan 11.
