My group previously encountered an RDEB patient who was compound heterozygous for c.5932C>T (p.Arg1978Ter) and c.8029G>A (p.Gly2677Ser) in COL7A1, the latter being a missense variant4, 26 (Figure 5a,b). This evidence concerns the gene COL7A1 and recessive dystrophic epidermolysis bullosa.