Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.


In this case report of autosomal recessive pigmented hypomaturation amelogenesis imperfecta (AI), we identify a novel homozygous missense mutation (g.165151 T>G; c.1317 T>G; p.Leu436 Arg) in SLC24A4, a gene encoding a potassium-dependent sodium-calcium exchanger that is critical for hardening dental enamel during tooth development.

DOI: 10.1016/j.oooo.2014.09.003

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@article{Herzog2015HypomaturationAI, title={Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.}, author={Curtis R Herzog and Bryan M. Reid and Figen Seymen and Mine Koruyucu and Elif Bahar Tuna and James P. Simmer and J . C . - C . Hu}, journal={Oral surgery, oral medicine, oral pathology and oral radiology}, year={2015}, volume={119 2}, pages={e77-81} }