Genetics and Bone Mineral Density Predict the Fractures in Adults With Osteogenesis Imperfecta: A Prospective Study
Our OI cohort showed low BMD at the lumbar spine but no significant change at any site after a median of 5.0 years of follow-up. The probability of fracture was associated with baseline BMD Z-score <-2 SD vs ≥-2 SD and harboring COL1 splicing, stop codon, and frameshift variants.
Authors
- Agnès Ostertag (ORCID: https://orcid.org/0000-0002-1966-3213)
- Thomas Funck‐Brentano (ORCID: https://orcid.org/0000-0001-7684-2405)
- Corinne Collet (ORCID: https://orcid.org/0000-0001-6990-863X)
- Camille Blandin (ORCID: https://orcid.org/0000-0001-5774-8878)
- Martine Cohen‐Solal (ORCID: https://orcid.org/0000-0002-8582-8258)
Institutions
- Inserm (FR)
- Université Paris Cité (FR)
- Bioscar (FR)
- Hôpital Lariboisière (FR)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2024-11-08
- DOI
- https://doi.org/10.1210/clinem/dgae791
- Citations
- 2
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 1.10