Junctional epidermolysis bullosa with pyloric atresia
Encyclopedia
Junctional epidermolysis bullosa with pyloric atresia is a rare autosomal recessive form of junctional epidermolysis bullosa
that presents at birth with severe mucocutaneous fragility and gastric outlet obstruction.
It can be associated with ITGB4
or ITGA6
.
Junctional epidermolysis bullosa (medicine)
Junctional epidermolysis bullosa is a skin condition characterized by blister formation within the lamina lucida of the basement membrane zone.Types include:Another form, cicatricial junctional epidermolysis bullosa, is not included in OMIM....
that presents at birth with severe mucocutaneous fragility and gastric outlet obstruction.
It can be associated with ITGB4
ITGB4
Integrin, beta 4 also known as CD104 , is a human gene.-Interactions:ITGB4 has been shown to interact with Collagen, type XVII, alpha 1, EIF6 and Erbin.-Further reading:...
or ITGA6
ITGA6
Integrin alpha-6 is a protein that in humans is encoded by the ITGA6 gene.-Interactions:ITGA6 has been shown to interact with TSPAN4 and GIPC1.-External links:* Info with links in the...
.