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pro vyhledávání: '"Nick Bishop"'
Autor:
Paul Arundel, Muhammad Javaid, Meena Balasubramanian, Jessica M Bowen, Luiz Cesar Peres, Nick Bishop, Glenda Sobey, Bart E. Wagner, J Bexon
Publikováno v:
Ultrastructural Pathology. 40:71-76
Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. Over 90% of patients with OI have a mutation in COL1A1/COL1A2, which shows an autosoma
Publikováno v:
British Journal of Neurosurgery. 26:487-489
Osteogenesis imperfecta (OI) is a genetic disorder whose primary manifestations are fractures, bone deformity and bone pain. Brainstem compression due to basilar invagination is a rare and potentially life-threatening complication of OI. Children wit