Abnormal collagen protein leading to separation of the epidermis from the underlying dermis
Symptoms Blistering and ulcerations of the skin and inside the mouth and in the esophagus, growth retardation, nails dystrophy
Gene involved COL7A1
Mutation tested c.5716G>A
Transmission mode : Autosomal recessive
Publication : Niskanen et al. (2017). Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs.