ITGB4

integrin subunit beta 4
OMIM: 147557
PanelMode of inheritanceDetails
2 panels
R-numbers: R164
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650, Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis Bullosa with Pyloric Atresia. 226730