Adult diagnosis of Cockayne syndrome

Neurology. 2019 Nov 5;93(19):854-855. doi: 10.1212/WNL.0000000000008449.
No abstract available

Publication types

  • Case Reports
  • Video-Audio Media

MeSH terms

  • Cockayne Syndrome / diagnostic imaging*
  • Cockayne Syndrome / genetics
  • Cockayne Syndrome / physiopathology
  • DNA Helicases / genetics
  • DNA Repair Enzymes / genetics
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Poly-ADP-Ribose Binding Proteins / genetics
  • Tomography, X-Ray Computed
  • Young Adult

Substances

  • Poly-ADP-Ribose Binding Proteins
  • DNA Helicases
  • ERCC6 protein, human
  • DNA Repair Enzymes