Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Dental Research"
DOI: 10.1177/00220345231154569
Abstract: 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… read more here.
Keywords: col1a2 variants; dentinogenesis imperfecta; col1a1 col1a2;
Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.935905
Abstract: Purpose Nearly 85%-90% of osteogenesis imperfecta (OI) cases are caused by autosome dominant mutations of COL1A1 and COL1A2 genes, of which de novo mutations cover a large proportion, whereas their characteristics remain to be elucidated.… read more here.
Keywords: inherited mutations; inherited col1a1; novo mutations; col1a1 col1a2 ... See more keywords