Article
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.
Human genetics - 1 Jan 2010
Dimasi David P, Chen Jern Y, Hewitt Alex W, Klebe Sonja, Davey Richard, Stirling John, Thompson Elizabeth, Forbes Robin, Tan Tiong Y, Savarirayan Ravi, Mackey David A, Healey Paul R, Mitchell Paul, Burdon Kathryn P, Craig Jamie E
Abstract excerpt
Osteogenesis imperfecta (OI) is a rare connective tissue disorder caused by mutations in the type I collagen genes, COL1A1 and COL1A2, and is characterised by low bone mass and bone fragility. In this study, we explored the relationship between type 1 collagen genes and the quantitative trait central corneal thickness (CCT). CCT was measured in a cohort of 28 Australian type I OI patients and mean CCT was found...
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