ITGB4

integrin subunit beta 4
OMIM: 147557
PanelMode of inheritanceDetails
2 panels
R-numbers: R164
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Generalised intermediate junctional Epidermolysis bullosa, Epidermolysis bullosa, junctional, non-Herlitz type, 226650, Epidermolysis bullosa, junctional, with pyloric atresia, 226730, Epidermolysis bullosa with pyloric atresia
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis Bullosa with Pyloric Atresia. 226730