Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.
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ABSTRACT:
SUBMITTER: Herzog CR
PROVIDER: S-EPMC4291293 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
Publications
Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.
Herzog Curtis R CR Reid Bryan M BM Seymen Figen F Koruyucu Mine M Tuna Elif Bahar EB Simmer James P JP Hu Jan C-C JC
Oral surgery, oral medicine, oral pathology and oral radiology 20140916 2
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. ...[more]
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