P M Yamaguti, M de La Dure-Molla, S Monnot, Y J Cardozo-Amaya, G Baujat, C Michot, B P J Fournier, M C Riou, E C C Caldas Rosa, Y Soares de Lima, P A C Dos Santos, G Alcaraz, E N S Guerra, L C Castro, S F de Oliveira, R Pogue, A Berdal, L M de Paula, J F Mazzeu, V Cormier-Daire, A C Acevedo
Dentinogenesis imperfecta (DI) is the main orodental manifestation of osteogenesis imperfecta (OI) caused by COL1A1 or COL1A2 heterozygous pathogenic variants. Its prevalence varies according to the studied population. Here, we report the molecular analysis of 81 patients with OI followed at reference centers in Brazil and France presenting COL1A1 or COL1A2 variants. Patients were submitted to clinical and radiographic dental examinations to diagnose the presence of DI. In addition, a systematic literature search and a descriptive statistical analysis were performed to investigate OI/DI phenotype-genotype correlation in a worldwide sample...
March 23, 2023: Journal of Dental Research