A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).

@article{Mrdh2002ANM,
  title={A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).},
  author={Carina K M{\aa}rdh and Birgitta B{\"a}ckman and G{\"o}sta Holmgren and Jan C. C. Hu and James P. Simmer and Kristina Forsman-Semb},
  journal={Human molecular genetics},
  year={2002},
  volume={11 9},
  pages={1069-74}
}
Amelogenesis imperfecta (AI) is an inherited tooth disorder affecting tooth enamel formation only. A gene for autosomal dominant AI, the local hypoplastic form, has been localized to a 4 Mb region on chromosome 4q (AIH2). The enamelin gene (ENAM ), has been mapped to chromosome 4q21, to the same region as AIH2, and was recently shown to be mutated in… CONTINUE READING