Pycnodysostosis: A rare cause of pathological fractures and exuberant clinical manifestations in two sisters

Joint Bone Spine. 2023 Jul;90(4):105547. doi: 10.1016/j.jbspin.2023.105547. Epub 2023 Feb 15.
No abstract available

Keywords: Bone disorder; CTSK gene; Pycnodysostosis.

Publication types

  • Letter

MeSH terms

  • Cathepsin K
  • Female
  • Fractures, Spontaneous* / diagnostic imaging
  • Fractures, Spontaneous* / etiology
  • Humans
  • Pycnodysostosis* / diagnosis
  • Pycnodysostosis* / diagnostic imaging

Substances

  • Cathepsin K