[Cockayne syndrome: a new mutation in the ERCC8 gene]

Rev Neurol. 2012 Aug 16;55(4):250-1.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Brain / pathology
  • Cerebral Palsy / diagnosis
  • Cockayne Syndrome / diagnosis
  • Cockayne Syndrome / epidemiology
  • Cockayne Syndrome / genetics*
  • Cockayne Syndrome / pathology
  • Codon / genetics
  • Codon, Nonsense*
  • DNA Repair Enzymes / genetics*
  • Diagnostic Errors
  • Disease Progression
  • Dominican Republic / ethnology
  • Follow-Up Studies
  • Homozygote
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Phenotype
  • Sequence Analysis, DNA
  • Transcription Factors / genetics*

Substances

  • Codon
  • Codon, Nonsense
  • ERCC8 protein, human
  • Transcription Factors
  • DNA Repair Enzymes