A novel COL1A1 mutation causing a variant of osteogenesis imperfecta

Lindsey C McVey¹, Avril Mason, Rebecca Pollitt+2

• ¹aDevelopmental Endocrinology Research Group, Child Health, School of Medicine, University of Glasgow, Royal Hospital for Children bWest of Scotland Genetics Service, Laboratory Medicine Building, Queen Elizabeth Hospitals, Glasgow cSheffield Diagnostics Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, UK.