20 References 1. Steiner RD, Basel D. COL1A1 / 2 Osteogenesis Imperfecta. GeneReviews® - NCBI Bookshelf 2005. 2. Storoni S, Treurniet S, Maugeri A, et al. Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study. Front Endocrinol (Lausanne) 2022; 13. DOI:10.3389/fendo.2022.869604. 3. Forlino A, Marini JC. Osteogenesis imperfecta. The Lancet 2016; 387: 1657–71. 4. Hald JD, Folkestad L, Harsløf T, Brixen K, Langdahl B. Health-Related Quality of Life in Adults with Osteogenesis Imperfecta. Calcif Tissue Int 2017; 101: 473–8. 5. Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. 2011; 7. DOI:10.1038/nrendo.2011.81. 6. Byers PH. Osteogenesis imperfecta: Perspectives and opportunities. Curr Opin Pediatr 2000; 12. DOI:10.1097/00008480-200012000-00016. 7. Claeys L, Storoni S, Eekhoff M, et al. Collagen transport and related pathways in Osteogenesis Imperfecta. Hum Genet. 2021; 140: 1121–41. 8. Van Dijk FSS, Sillence DOO. Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 2014; 164: 1470–81. 9. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16: 101–16. 10. Hayat A, Hussain S, Bilal M, et al. Biallelic variants in four genes underlying recessive osteogenesis imperfecta. Eur J Med Genet 2020; 63. DOI:10.1016/j.ejmg.2020.103954. 11. Etich J, Rehberg M, Eckes B, Sengle G, Semler O, Zaucke F. Signaling pathways affected by mutations causing osteogenesis imperfecta. Cell Signal 2020; 76. DOI:10.1016/j.cellsig.2020.109789. 12. Bacon S, Crowley R. Developments in rare bone diseases and mineral disorders. Ther Adv Chronic Dis 2018; 9. DOI:10.1177/2040622317739538. 13. Yonko EA, Emanuel JS, Carter EM, Sandhaus RA, Raggio CL. Respiratory impairment impacts QOL in osteogenesis imperfecta independent of skeletal abnormalities. Arch Osteoporos 2020; 15. DOI:10.1007/s11657-020-00818-0. 14. McAllion SJ, Paterson CR. Causes of death in osteogenesis imperfecta. J Clin Pathol 1996; 49: 627–30. 15. Folkestad L, Hald JD, Canudas-Romo V, et al. Mortality and Causes of Death in Patients With Osteogenesis Imperfecta: A Register-Based Nationwide Cohort Study. Journal of Bone and Mineral Research 2016; 31: 2159–66.
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