Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels

J Med Genet. 2000 Jul;37(7):553-7. doi: 10.1136/jmg.37.7.553.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Cockayne Syndrome / cerebrospinal fluid*
  • Cockayne Syndrome / diagnosis
  • Cockayne Syndrome / metabolism
  • Diagnosis, Differential
  • Humans
  • Hydroxyindoleacetic Acid / cerebrospinal fluid*
  • Magnetic Resonance Imaging
  • Male
  • Phenotype
  • Tomography, X-Ray Computed

Substances

  • Hydroxyindoleacetic Acid