A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

  title={A type X collagen mutation causes Schmid metaphyseal chondrodysplasia},
  author={Matthew L Warman and Margaret Abbott and Suneel S. Apte and Tim Hefferon and Iain Mcintosh and Daniel H Cohn and Jacqueline Tauber Hecht and Bjorn Reino Olsen and Clair A. Francomano},
  journal={Nature Genetics},
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 identified a 13 base pair deletion in one type X collagen allele segregating with autosomal dominant Schmid metaphyseal chondrodysplasia in a… CONTINUE READING


Publications citing this paper.
Showing 1-10 of 60 extracted citations

Similar Papers

Loading similar papers…