A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

  title={A type X collagen mutation causes Schmid metaphyseal chondrodysplasia},
  author={Matthew L. Warman and M. Abbott and Suneel S. Apte and T. Hefferon and I. Mcintosh and D. Cohn and Jacqueline T. Hecht and B. Olsen and Clair A. Francomano},
  journal={Nature Genetics},
  • Matthew L. Warman, M. Abbott, +6 authors Clair A. Francomano
  • Published 1993
  • Biology, Medicine
  • 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
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