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Article

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

Journal of dental research - 1 Jan 2018

Dinckan N, Du R, Petty L E, Coban-Akdemir Z, Jhangiani S N, Paine I, Baugh E H, Erdem A P, Kayserili H, Doddapaneni H, Hu J, Muzny D M, Boerwinkle E, Gibbs R A, Lupski J R, Uyguner Z O, Below J E, Letra A

Abstract excerpt

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...

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Anodontia
Exome Sequencing
Intercellular Signaling Peptides and Proteins
Laminin
Low Density Lipoprotein Receptor-Related Protein-6

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Real-Time Polymerase Chain Reaction

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Open in PubMed Open full text

Identifiers

PMID: 28813618
DOI: 10.1177/0022034517724149
PMCID: PMC6728545

Genes

LRP6
DKK1
KREMEN1
LAMA3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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