Desquamative Enteropathy and Pyloric Atresia Without Skin Disease Caused by a Novel Intracellular β4 Integrin Mutation

Autor: Salvestrini, Camilla, McGrath, John A, Ozoemena, Linda, Husain, Khaled, Buhamrah, Eman, Sabery, Nasim, Leichtner, Alan, Rufo, Paul A, Perez-Atayde, Antonio, Orteu, Cate H, Torrente, Franco, Heuschkel, Robert B, Thomson, Michael A, Murch, Simon H
Zdroj: Journal of Pediatric Gastroenterology & Nutrition; November 2008, Vol. 47 Issue: 5 p585-591, 7p
Abstrakt: Mutations in α6 or β4 integrins (ITGA6, ITGB4) are known to cause junctional epidermolysis bullosa with pyloric atresia (JEB-PA), often lethal in infancy through skin desquamation. There is 1 report of pyloric atresia associated with a desquamatory enteropathy but without skin disease, of unknown molecular basis.
Databáze: Supplemental Index