Pathology
gerline mutations in:
- autosomal recessive epidermolysis bullosa dystrophica (MIM.226600)
- autosomal dominant epidermolysis bullosa dystrophica (MIM.131750)
- pretibial epidermolysis bullosa (MIM.131850)
- mild form of localized recessive epidermolysis bullosa dystrophica (MIM.226600)
- transient bullous dermolysis of the newborn (TBDN) (MIM.131705)
- autosomal dominant epidermolysis bullosa pruriginosa (MIM.604129)
- autosomal recessive epidermolysis bullosa pruriginosa (MIM.604129)
- isolated nail dystrophy (MIM.607523)