A novel mutation in two families with pycnodysostosis

Clin Dysmorphol. 2013 Jul;22(3):102-105. doi: 10.1097/MCD.0b013e3283619632.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bone Matrix / metabolism
  • Bone and Bones / abnormalities
  • Bone and Bones / diagnostic imaging
  • Cathepsin K / genetics*
  • Child, Preschool
  • Collagen Type I / metabolism
  • Female
  • Humans
  • Male
  • Osteoclasts / cytology
  • Osteoclasts / metabolism
  • Osteonectin / metabolism
  • Osteopontin / metabolism
  • Pycnodysostosis / genetics*
  • Radiography

Substances

  • Collagen Type I
  • Osteonectin
  • Osteopontin
  • CTSK protein, human
  • Cathepsin K