Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta
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DOI: 10.1007/s00198-017-4031-2
Abstract: SummaryIn 26 of 94 individuals (28%) below 21 years of age who had a significant fracture history but did not have extraskeletal features of osteogenesis imperfecta (OI), we detected disease-causing mutations in OI-associated genes.IntroductionIn children who… read more here.
Keywords: diagnosis; diagnosis children; osteogenesis imperfecta; molecular diagnosis ... See more keywords