A type X collagen mutation causes Schmid metaphyseal chondrodysplasia


The expression of type X collagen is restricted to hypertrophic chondrocytes in regions undergoing endochondral ossification, such as growth plates. The precise function of type X collagen is unknown but the tissue–specific expression prompted us to examine the gene in hereditary disorders of cartilage and bone growth (osteochondrodysplasias). We have… (More)
DOI: 10.1038/ng0993-79