Splice-site variant c.3531+1G>T in COL1A1 in a family with osteogenesis imperfecta
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DOI: 10.3892/mmr.2025.13582
Abstract: Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by high genetic and phenotypic heterogeneity. Notably, 90% of cases of OI are caused by pathogenic variants in the COL1A1 and COL1A2 genes, with those in… read more here.
Keywords: site variant; splice site; family; variant 3531 ... See more keywords