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 |
Externí odkaz: |
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