Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophy

J Med Genet. 2000 Apr;37(4):312-4. doi: 10.1136/jmg.37.4.312.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology
  • Alleles
  • Child, Preschool
  • Cysteine / analysis
  • DNA Helicases*
  • DNA-Binding Proteins / genetics
  • Drosophila Proteins*
  • Female
  • Hair / abnormalities*
  • Humans
  • Keratoderma, Palmoplantar / genetics
  • Mutation
  • Photosensitivity Disorders / genetics*
  • Proteins / genetics
  • Skin Abnormalities / genetics*
  • Transcription Factors*
  • Xeroderma Pigmentosum Group D Protein

Substances

  • DNA-Binding Proteins
  • Drosophila Proteins
  • Proteins
  • Transcription Factors
  • hay protein, Drosophila
  • DNA Helicases
  • Xeroderma Pigmentosum Group D Protein
  • ERCC2 protein, human
  • Cysteine