Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U, Watson CM, Liu L, Smith CEL, Harfoush A, Poulter JA, Nikolopoulos G, Balmer R, Brown CJ, Patel A, et al. J Med Genet. 2024 Mar 21; 61(4):347-355. Epub 2024 Mar 21.