Catalog

Epidermolysis bullosa simplex, autosomal recessive keratin 14 deficiency

No MMS code

Link to WHO Definition

Epidermolysis bullosa simplex, autosomal recessive keratin 14 deficiency – http://id.who.int/icd/entity/295951371

This rare severe autosomal recessive form of epidermolysis bullosa simplex (EBS-AR K14) results from mutations in the KR14 gene.