| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6055580 | Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology | 2015 | 5 Pages |
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.
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Authors
Curtis R. Herzog, Bryan M. BS, Figen DDS, PhD, Mine DDS, PhD, Elif Bahar DDS, PhD, James P. DDS, PhD, Jan C-C. BDS, PhD,