Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.

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.

SUBMITTER: Herzog CR 

PROVIDER: S-EPMC4291293 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature