Article
Alteration of Exon Definition Causes Amelogenesis Imperfecta.
Journal of dental research - 1 Apr 2020
Kim Y J, Kang J, Seymen F, Koruyucu M, Zhang H, Kasimoglu Y, Bayram M, Tuna-Ince E B, Bayrak S, Tuloglu N, Hu J C-C, Simmer J P, Kim J-W
Abstract excerpt
Amelogenesis imperfecta (AI) is a collection of genetic disorders affecting the quality and/or quantity of tooth enamel. More than 20 genes are, so far, known to be responsible for this condition. In this study, we recruited 3 Turkish families with hypomaturation AI. Whole-exome sequence analyses identified disease-causing mutations in each proband, and these mutations cosegregated with the AI phenotype in all...
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