Five Novel COL7A1 Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa.

Our findings expand the mutation spectrum of COL7A1 leading to RDEB and confirm that the RDEB phenotype correlates with the compound heterozygous PTC mutation with a missense mutation. This study will aid the molecular diagnosis, genetic counseling and prognosis prediction of RDEB patients.