Article
Increased Burden of Common Risk Alleles in Children With a Significant Fracture History.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 May 2020
Manousaki Despoina, Kämpe Anders, Forgetta Vincenzo, Makitie Riikka E, Bardai Ghalib, Belisle Alexandre, Li Rui, Andersson Sture, Makitie Outi, Rauch Frank, Richards J Brent
Abstract excerpt
Extreme presentations of common disease in children are often presumed to be of Mendelian etiology, but their polygenic basis has not been fully explored. We tested whether children with significant fracture history and no osteogenesis imperfecta (OI) are at increased polygenic risk for fracture. A childhood significant fracture history was defined as the presence of low-trauma vertebral fractures or multiple...
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