Non-COL1A1/2 genetic burden and osteoporosis-overlap in patients referred with osteogenesis imperfecta phenotype
pubmed: wnt1 2026-07-10
Summary:
CONCLUSIONS: A significant proportion of patients referred with an OI phenotype genetically represent early-onset osteoporosis or OI-overlap disorders rather than true collagenopathies. Comprehensive NGS-based testing, including copy-number analysis and non-COL1A1/2 genes, enables accurate classification across the bone fragility spectrum and improves diagnostic yield.