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epidermolysis bullosa with pyloric atresia

MIM.226730 17q11-qter and Chr.2

Sunday 5 February 2006

Death in infancy

Synospsis

- ureterovesical junction stenosis
- pyelonephrosis
- congenital pyloric atresia
- membranous pyloric antrum obstruction
- intractable diarrhea
- protein-losing gastroenteropathy
- fetal gastric dilatation
- esophageal atresia
- aplasia cutis congenita
- axillary pterygia
- variably involved skin, nails, and mucosa
- ectropion
- ear deformity
- nose deformity
- contracted fisted hand
- arthrogryposis
- skin cleavage in the lamina lucida

Etiology

- germline mutations in the integrin-beta-4 gene (ITGB4) (MIM.147557) and the integrin-alpha-6 gene (ITGA6) (MIM.147556)