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Heterozygous oim mice exhibit a mild form of osteogenesis imperfecta.
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Intraparenchymal hemorrhage in a patient with osteogenesis imperfecta and plasminogen activator inhibitor-1 deficiency.
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Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation.
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AAV-based gene editing of type 1 collagen mutation to treat osteogenesis imperfecta.
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Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.
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