[Pycnodysostosis, a case report]

Presse Med. 2015 Nov;44(11):1193-6. doi: 10.1016/j.lpm.2015.09.003. Epub 2015 Oct 9.
[Article in French]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Brain / pathology
  • Cathepsin K / genetics
  • Consanguinity
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics
  • Epilepsy / etiology
  • Finger Phalanges / abnormalities
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Phenotype
  • Pycnodysostosis / complications
  • Pycnodysostosis / diagnosis*
  • Pycnodysostosis / diagnostic imaging
  • Pycnodysostosis / genetics
  • Radiography
  • Young Adult

Substances

  • CTSK protein, human
  • Cathepsin K