AI Article Synopsis
- This case report discusses a specific type of genetic condition called autosomal recessive pigmented hypomaturation amelogenesis imperfecta (AI), which affects dental enamel.
- Researchers discovered a new homozygous missense mutation in the SLC24A4 gene, which is important for proper enamel formation in teeth.
- The mutation is noted as g.165151 T>G; c.1317 T>G; p.Leu436 Arg, highlighting its specific genetic change and its role in disrupting the enamel hardening process.
Article 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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291293 | PMC |
| http://dx.doi.org/10.1016/j.oooo.2014.09.003 | DOI Listing |
Publication Analysis
Top Keywords
hypomaturation amelogenesis
8
amelogenesis imperfecta
8
imperfecta caused
4
caused novel
4
novel slc24a4
4
slc24a4 mutation
4
mutation case
4
case report
4
report autosomal
4
autosomal recessive
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!