Ontology highlight
ABSTRACT:
SUBMITTER: Koruyucu M
PROVIDER: S-EPMC6055254 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Koruyucu M M Kang J J Kim Y J YJ Seymen F F Kasimoglu Y Y Lee Z H ZH Shin T J TJ Hyun H K HK Kim Y J YJ Lee S H SH Hu J C C JCC Simmer J P JP Kim J W JW
Journal of dental research 20180319 9
Tooth enamel, the hardest tissue in the human body, is formed after a complex series of interactions between dental epithelial tissue and the underlying ectomesenchyme. Nonsyndromic amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel without other nonoral symptoms. In this study, we identified 2 novel ENAM mutations in 2 families with hypoplastic AI by whole exome sequencing. Family 1 had a heterozygous splicing donor site mutation in intron 4, NM_031889; c.123+2T>G. A ...[more]