Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa.
Neng YangYongyi MaHong YaoQing ChangVictor ZhangZhiqing LiangXiongwei CaiPublished in: Molecular genetics & genomic medicine (2020)
Our study expands the mutation spectrum of COL7A1 and demonstrated that CES and minigene assays were efficient tools for RDEB molecular diagnoses.