COL7A1 and recessive dystrophic epidermolysis bullosa: A patient with a paternal COL7A1 exon 76 PTC variant (c.6311_6312delCT) and a maternal COL7A1 exon 15 PTC (c.2005C>T) variant, leading to RDEB-sev in other patients, was shown to have a milder-than-expected phenotype.