Trichothiodystrophy: report of a new case with severe nervous system impairment

J Child Neurol. 1992 Jul;7(3):300-3. doi: 10.1177/088307389200700311.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Agenesis of Corpus Callosum*
  • Child, Preschool
  • Cystine / deficiency
  • Female
  • Hair / pathology
  • Hair Diseases / diagnosis
  • Hair Diseases / genetics*
  • Humans
  • Ichthyosis / diagnosis
  • Ichthyosis / genetics
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Microscopy, Electron, Scanning
  • Nervous System Diseases / diagnosis
  • Nervous System Diseases / genetics*
  • Neurologic Examination*
  • Optic Atrophy / diagnosis
  • Optic Atrophy / genetics

Substances

  • Cystine