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Article

Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.

Journal of dental research - 1 Jun 2023

Yamaguti P M, de La Dure-Molla M, Monnot S, Cardozo-Amaya Y J, Baujat G, Michot C, Fournier B P J, Riou M C, Caldas Rosa E C C, Soares de Lima Y, Dos Santos P A C, Alcaraz G, Guerra E N S, Castro L C, de Oliveira S F, Pogue R, Berdal A, de Paula L M, Mazzeu J F, Cormier-Daire V, Acevedo A C

Abstract excerpt

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...

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Identifiers

PMID: 36951356
DOI: 10.1177/00220345231154569

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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