Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation


HERZOG C. R., Reid B. M., Seymen F., Koruyucu M., Tuna E. B., SIMMER J. P., ...More

ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY, vol.119, no.2, 2015 (SCI-Expanded) identifier identifier identifier

Abstract

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.