Molecular and clinical findings in Osteogenesis Imperfecta: A cohort study from a single tertiary center

CONCLUSION: In this tertiary-center cohort, integrating phenotype with molecular testing improved diagnostic stratification in suspected OI and highlighted the predominance of COL1A-related disease. However, the continued clinical relevance of VUS and panel-negative results underscores the need for broader second-tier genetic testing and periodic reanalysis in cases where clinical suspicion persists.