Dystrophic Epidermolysis Bullosa

Abnormal collagen protein leading to separation of the epidermis from the underlying dermis

Blistering and ulcerations of the skin and inside the mouth and in the esophagus, growth retardation, nails dystrophy

Gene involved

Mutation tested

Transmission mode : Autosomal recessive

Publication : Niskanen et al. (2017). Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs.

Concerned breeds :