Abstract:Osteogenesis imperfecta (OI) is clinically and genetically heterogeneous. Defects in collagen type 1 are reportedly the main cause of OI (85-90%), but most available data has arisen from developed countries. Massively parallel sequencing (MPS) technologies now allow for systematic and comprehensive analysis of OI genes simultaneously. Our objective was to obtain the molecular diagnosis of OI through targeted MPS in a single tertiary center cohort of Brazilian adults with OI. After informed consent, DNA samples… Show more
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