Genetic spectrum of eidermolysis bullosa
OBJECTIVES:To investigate the frequency of pathogenic variant carriage in genes associated with epidermolysis bullosa EB.To characterize the molecular features of the identified pathogenic variants in EB genes in patients with a clinical diagnosis of EB.To assess potential genotype phenotype correlations between the identified pathogenic variants and the clinical subtype and severity of EB.To provide genetic counseling to patients in whom pathogenic variants in EB associated genes have been identified.