Article
Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.
The British journal of dermatology - 1 Nov 1998
Mellerio J E, Pulkkinen L, McMillan J R, Lake B D, Horn H M, Tidman M J, Harper J I, McGrath J A, Uitto J, Eady R A
Abstract excerpt
Junctional epidermolysis bullosa associated with pyloric atresia (EB-PA; OMIM 226730) is a rare autosomal recessively inherited disease in which mucocutaneous fragility is associated with gastrointestinal atresia. This disease is usually fatal within the first few weeks or months of life even fol...
Topics
- Antigens, CD
- Child
- Child, Preschool
- Epidermolysis Bullosa, Junctional
- Humans
- Integrin beta4
- Integrins
- Male
- Mutation
- Pedigree
- Pylorus
- Skin
- Syndrome