Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

@article{Dinkan2018WholeExomeSI,
  title={Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.},
  author={Nuriye Dinçkan and Renqian Du and Lauren E. Petty and Zeynep H. Coban-Akdemir and Shalini N. Jhangiani and Ingrid Paine and Evan H. Baugh and Arzu Pinar Erdem and H{\"u}lya Kayserili and Harsha Doddapaneni and Jianhong Hu and Donna M. Muzny and Eric Boerwinkle and Richard A. Gibbs and James R Lupski and Zehra Oya Uyguner and Jennifer E. Below and Ariadne Letra},
  journal={Journal of dental research},
  year={2018},
  volume={97 1},
  pages={49-59}
}
Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or more permanent teeth. Tooth agenesis is complex, and variations in about a dozen genes have been reported as contributing to the etiology. Here, we combined whole-exome sequencing, array-based genotyping, and linkage analysis to identify putative pathogenic variants in candidate disease genes for tooth agenesis in 10 multiplex Turkish families. Novel homozygous and heterozygous variants in LRP6… CONTINUE READING
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