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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 …
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
Mutlu M, Kalay E, Dilber B, Aslan Y, Dilber E, Almaani N, McGrath JA. Mutlu M, et al. Turk J Pediatr. 2015 Jul-Aug;57(4):385-387. Turk J Pediatr. 2015. PMID: 27186702
There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare autosomal recessive form and characterized by severe mucocutaneous bliste …
There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullos …
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.
Lépinard C, Descamps P, Meneguzzi G, Blanchet-Bardon C, Germain DP, Larget-Piet L, Beringue F, Berchel C, Muller F, Dumez Y. Lépinard C, et al. Prenat Diagn. 2000 Jan;20(1):70-5. doi: 10.1002/(sici)1097-0223(200001)20:1<70::aid-pd747>3.0.co;2-e. Prenat Diagn. 2000. PMID: 10701857
Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. ...
Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, auto …
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin beta4 gene.
Stoevesandt J, Borozdin W, Girschick G, Hamm H, Höcht B, Kohlhase J, Volz A, Wiewrodt B, Wirbelauer J. Stoevesandt J, et al. Klin Padiatr. 2012 Jan;224(1):8-11. doi: 10.1055/s-0031-1285877. Epub 2011 Sep 26. Klin Padiatr. 2012. PMID: 21969027
BACKGROUND: Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare autosomal recessive disease with blister formation within the lamina lucida due to mutations in the integrin beta4 (ITGB4) and alpha6 (ITGA6) genes. ...
BACKGROUND: Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) is a rare autosomal rec …
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
Ashton GH, Sorelli P, Mellerio JE, Keane FM, Eady RA, McGrath JA. Ashton GH, et al. Br J Dermatol. 2001 Feb;144(2):408-14. doi: 10.1046/j.1365-2133.2001.04038.x. Br J Dermatol. 2001. PMID: 11251584
Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) (MIM 226730) is an autosomal recessive disorder resulting from mutations in the genes encoding alpha 6 beta 4 integrin (ITGA6 and ITGB4). ...
Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) (MIM 226730) is an autosomal recess …