Search results for KRT14

Gene symbol Genotype Mutation consequence Disease Panels Go to page
KRT14 biallelic loss of function Epidermolysis Bullosa Simplex (recessive) Skin
KRT14 monoallelic dominant negative Epidermolysis Bullosa Simplex generalised severe (Dowling - Meara) Skin
KRT14 monoallelic dominant negative Epidermolysis Bullosa Simplex localised(Weber Cockayne) Skin
KRT14 monoallelic dominant negative Epidermolysis Bullosa Simplex generalised intermediate (Köbner) Skin
KRT14 monoallelic loss of function Naegeli syndrome Skin