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Novel Disease Genes Underlying Rare Recessively Inherited Forms Of Osteogenesis Imperfecta
Osteogenesis imperfecta (OI) is a rare inherited connective tissue disorder affecting bone. Defining features are fragile bones that are highly susceptible to fracture (“brittle bone”) and bone deformation. There is a high degree of variability in the clinical skeletal features of OI, even sometimes within families. Presentations ...