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Novel missense mutation in PAX9 gene associated with familial tooth agenesis
Journal of Oral Pathology & Medicine, 08/01/2012
Junior BRB et al. – Variations IVS2–109G>C, IVS2–54A>G, and IVS2–41A>G were identified in both affected and unaffected members of the sample; however, these polymorphic variants may be involved in the phenotype as one proband showing all three intronic mutations in homozygosis was affected with the most severe oligodontia within the sample.
