The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort

ConclusionsNovel disease-causing variants were identified in 29%, and a higher proportion of non-collagen defects was seen. Obtaining a precise diagnosis of OI in underrepresented populations allows expanding our understanding of its molecular landscape, potentially leading to improved personalized care in the future.
Source: Osteoporosis International - Category: Orthopaedics Source Type: research