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, Simmonds J, Charlton R, Acosta de Camargo MG, Rodd HD, Jafri H, Antanaviciute A, Moffat M, Al-Jawad M, Inglehearn CF, Mighell AJ.
Hany U, et al. Among authors: watson cm.
J Med Genet. 2024 Mar 21;61(4):347-355. doi: 10.1136/jmg-2023-109510.
J Med Genet. 2024.
PMID: 37979963
Free PMC article.