Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology 2015-Feb
Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.
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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.
