A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review
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Backgroud: Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous group of inherited connective tissue disorder. This investigation aims to elucidate the molecular etiology underlying a four-generation Chi... ...
