COL7A1 and Bardet-Biedl syndrome: Given the remarkable similarities between the splicing defects in Bardet–Biedl syndrome (BBS), SMA, and RDEB, efforts in these diseases offer invaluable insights for the development of ASO-based therapies tailored to the specific splicing abnormality mediated by the COL7A1 c.425A > G variant in RDEB.