Osteoarthritis with mild chondrodysplasia

Definition:

The disease is characterized by a progressive degeneration of the articular cartilages of joints with mild spinal chondrodysplasia due to the mutation of type II procollagen (COL2A1).

References:

[1]. R G Knowlton, et al. Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia. N Engl J Med. 1990 Feb 22;322(8):526-30. [Content Brief]

[2]. R J Mier, et al. Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1). Mol Genet Metab. 2001 Nov;74(3):338-41. [Content Brief]

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