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Epidermolysis bullosa with pyloric atresia.
Chung HJ, Uitto J. Chung HJ, et al. Dermatol Clin. 2010 Jan;28(1):43-54. doi: 10.1016/j.det.2009.10.005. Dermatol Clin. 2010. PMID: 19945615 Free PMC article. Review.
Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.
Wee LWY, Tan EC, Bishnoi P, Ng YZ, Lunny DP, Lim HW, Lee SP, Ong C, Yap TL, Mok YH, Low MY, Chu-Tian Chow C, Derrick L, Common JEA, Birgitte Lane E, Koh MJA. Wee LWY, et al. Pediatr Dermatol. 2021 Jul;38(4):908-912. doi: 10.1111/pde.14668. Epub 2021 Jun 21. Pediatr Dermatol. 2021. PMID: 34152038 Review.
We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) with minimal skin involvement but severe protein-losing enteropathy and airway involvement. ...
We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) with minimal sk …
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.
Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J, Marr P, Tran K, Turner A, Smith N, Murrell DF. Dang N, et al. Acta Derm Venereol. 2008;88(5):438-48. doi: 10.2340/00015555-0484. Acta Derm Venereol. 2008. PMID: 18779879 Free article. Review.
Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is an autosomal recessive blistering disease including lethal and non-lethal variants due to mutations in ITGB4 and ITGA6. ...
Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is an autosomal recessive blisterin