Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1

Am J Med Genet A. 2011 Jul;155A(7):1759-62. doi: 10.1002/ajmg.a.34056. Epub 2011 Jun 10.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Collagen Type II / genetics*
  • Exons
  • Femur Head Necrosis / diagnostic imaging
  • Femur Head Necrosis / genetics*
  • Heterozygote
  • Humans
  • Male
  • Mutation / genetics*
  • Radiography

Substances

  • COL2A1 protein, human
  • Collagen Type II