[Genetic basis for skeletal disease. Genetic defects in chondrodysplasia].

Abstract excerpt

Chondrodysplasia is a subset of skeletal dysplasia caused by genetic defects affecting chondrogenesis and its development, showing abnormal shape and structure of the skeleton. Pathology of growth plate results in defective skeletal development, such as short stature, while pathology of articular cartilage predisposes degenerative skeletal disease, such as early-onset osteoarthritis. Recently identified genetic...

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