Analysis of the WES data results in identification of two, homozygous novel mutations (c.7034G>A, p. Gly2345Asp and c.385del (p. His129MetfsTer18) and one known homozygous variant (c.1573 C>T (p. R525*) in the COL7A1 gene in diseased individuals of three families (A, B, and C), causing RDEB. This evidence concerns the gene COL7A1 and recessive dystrophic epidermolysis bullosa.