Human genes for junctional epidermolysis bullosa with pyloric atresia
Junctional epidermolysis bullosa with pyloric atresia [DOID:0060733]
A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.
Synonyms: junctional epidermolysis bullosa with pyloric atresia, DOID:0060733, junctional epidermolysis bullosa with pyloric atresias, Carmi syndrome, epidermolysis bullosa junctionalis with pyloric atresia ...