Epidermolysis Bullosa with Pyloric Atresia.
Lucky AW, Gorell E.
2008 Feb 22 [updated 2023 Jan 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
Epidermolysis bullosa with pyloric atresia: Report of two cases in consecutive siblings.
Márquez K, Rodríguez DA, Pérez LA, Duarte M, Zárate LA.
Biomedica. 2021 Jun 29;41(2):201-207. doi: 10.7705/biomedica.5401.
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.
Pediatr Dermatol. 2021 Jul;38(4):908-912. doi: 10.1111/pde.14668. Epub 2021 Jun 21.
Epidermolysis bullosa with pyloric atresia.
Chung HJ, Uitto J.
Dermatol Clin. 2010 Jan;28(1):43-54. doi: 10.1016/j.det.2009.10.005.
Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review.
Luo C, Yang L, Huang Z, Su Y, Lu Y, Yu D, Zhang M, Wu K.
Front Pediatr. 2023 Mar 23;11:1098273. doi: 10.3389/fped.2023.1098273. eCollection 2023.
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.
Acta Derm Venereol. 2008;88(5):438-48. doi: 10.2340/00015555-0484.
Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement.
Walker GD, Woody M, Orrin E, Mellerio JE, Levy ML.
Pediatr Dermatol. 2017 Jan;34(1):e61-e64. doi: 10.1111/pde.13026. Epub 2016 Nov 4.
Pyloric atresia with epidermolysis bullosa: fetal MRI diagnosis with postnatal correlation.
Merrow AC, Frischer JS, Lucky AW.
Pediatr Radiol. 2013 Dec;43(12):1656-61. doi: 10.1007/s00247-013-2737-7. Epub 2013 Jul 7.
Phenotypic discordance between siblings with junctional epidermolysis bullosa-pyloric atresia.
Verma KP, Robertson SJ, Winship IM.
Clin Exp Dermatol. 2020 Aug;45(6):793-795. doi: 10.1111/ced.14223. Epub 2020 May 2.
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.
