PAX9 gene mutations and tooth agenesis: A review

@article{Bonczek2017PAX9GM,
  title={PAX9 gene mutations and tooth agenesis: A review},
  author={Ondrej Bonczek and Vladimir J. Balcar and Omar {\vS}er{\'y}},
  journal={Clinical Genetics},
  year={2017},
  volume={92},
  pages={467 - 476}
}
Paired box 9 (PAX9) is one of the best‐known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth) and other inherited dental defects or variations. The most common consequence of PAX9 gene mutation is the… 
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In vitro and computational observations altogether suggest that c.336C>G (p.Cys112Trp) variation leads to loss-of-function of PAX9 leading to CTA in this family.
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