Factors Beyond COL7A1 Mutations May Contribute to Dystrophic EB Forms, Study Suggests
A study from Spain has raised the possibility that the development of dystrophic epidermolysis bullosa (DEB) could be attributable to additional factors besides mutations in the COL7A1 gene. Researchers reached this conclusion after studying three unrelated patients with different forms of DEB who had two identical mutations in the COL7A1 gene.