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Recent Publications

Multiexon COL1A2 deletion as a rare mechanism in osteogenesis imperfecta: Case report and literature review

February 20, 2026

Oliveira D, Almeida PM, Franco S, et al. Multiexon COL1A2 deletion as a rare mechanism in osteogenesis imperfecta: Case report and literature review. Bone. Published online January 29, 2026. doi:10.1016/j.bone.2026.117810

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Diagnosis, treatment, and management recommendations for cleidocranial dysplasia: A Modified Delphi panel

February 20, 2026

Hoover-Fong J, Anderson-Cermin C, Artinian F, et al. Diagnosis, treatment, and management recommendations for cleidocranial dysplasia: A Modified Delphi panel. J Bone Miner Res. Published online January 8, 2026. Doi:10.1093/jbmr/zjag004

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Six at Sixty. Commentary on osteogenesis imperfecta 1975–2025

February 20, 2026

Sillence D. Six at Sixty. Commentary on osteogenesis imperfecta 1975-2025. J Med Genet. 2025;62(6):422-426. Published 2025 May 27. Doi:10.1136/jmg-2025-110807

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About ISDS

International Skeletal Dysplasia Society: advancing global research, diagnosis, and collaboration to improve care for rare genetic bone disorders.

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