Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis.
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DOI: 10.1016/j.joca.2019.12.011
Abstract: OBJECTIVE Spondyloepiphyseal dysplasia, a combination of progressive arthropathy with variable signs of skeletal dysplasia, can be a result of mutations in the collagen, type II, alpha 1 (COL2A1) gene. However, the bone involvement (e.g., density,… read more here.
Keywords: skeletal deterioration; col2a1; spondyloepiphyseal dysplasia; osteoarthritis ... See more keywords