A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.
Smith CEL, Whitehouse LLE, Poulter JA, Wilkinson Hewitt L, Nadat F, Jackson BR, Manfield IW, Edwards TA, Rodd HD, Inglehearn CF, et al. Hum Mol Genet. 2020 Jun 3; 29(9):1417-1425.