Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene

Photodermatol Photoimmunol Photomed. 2016 Mar;32(2):110-2. doi: 10.1111/phpp.12225. Epub 2015 Dec 15.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Infant
  • Male
  • Mutation*
  • Trichothiodystrophy Syndromes / genetics*
  • Trichothiodystrophy Syndromes / pathology
  • Xeroderma Pigmentosum Group D Protein / genetics*

Substances

  • Xeroderma Pigmentosum Group D Protein
  • ERCC2 protein, human