Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14

What is it about?

Epidermolysis Bullosa Simplex is a heritable skin blistering disease most commonly caused by mutations in the genes encoding keratin 5 and 14. We present the third case reported in the world of digenic inheritance pattern in Epidermolysis Bullosa Simplex

Featured Image

Why is it important?

Our study adds two novel mutations causing EBS to the growing catalogue of genotype-phenotype correlations in EBS, and provides further evidence of digenic inheritance in EBS.