Intestinal Failure in Junctional Epidermolysis Bullosa: Mild Skin Disease, Severe Diarrhea
Author:
Publisher
Springer Science and Business Media LLC
Subject
Gastroenterology,Physiology
Link
https://link.springer.com/content/pdf/10.1007/s10620-022-07410-1.pdf
Reference10 articles.
1. Salvestrini C et al. Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular Beta4 integrin mutation. J Pediatr Gastroenterol Nutr 2008;47:585–591.
2. Kayki G et al. Epidermolysis bullosa with pyloric atresia and aplasia cutis in a newborn due to homozygous mutation in ITGB4. Fetal Pediatr Pathol 2017;36:332–339.
3. Wee LWY et al. Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease. Pediatr Dermatol 2021;38:908–912.
4. Lachaux A, Bouvier R, Loras-Duclaux I, Chappuis J, Meneguzzi G, Ortonne J. Isolated deficient α6β4 integrin expression in the gut associated with intractable diarrhea. J Pediatr Gastroenterol Nutr 1999;29:395–401.
5. Thiagarajah JR et al. Advances in evaluation of chronic diarrhea in infants. Gastroenterology 2018;154:2045–2059.
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