Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report
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DOI: 10.1186/s12881-018-0579-8
Abstract: BackgroundOsteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1… read more here.
Keywords: imperfecta; case; autosomal recessive; gene ... See more keywords