An unusual mutation in the XPG gene leads to an internal in-frame deletion and a XP/CS complex phenotype

Br J Dermatol. 2014 Oct;171(4):903-5. doi: 10.1111/bjd.13035. Epub 2014 Jul 26.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • DNA-Binding Proteins / genetics*
  • Endonucleases / genetics*
  • Female
  • Frameshift Mutation / genetics*
  • Humans
  • Nuclear Proteins / genetics*
  • Transcription Factors / genetics*
  • Xeroderma Pigmentosum / genetics*

Substances

  • DNA excision repair protein ERCC-5
  • DNA-Binding Proteins
  • Nuclear Proteins
  • Transcription Factors
  • Endonucleases

Supplementary concepts

  • Xeroderma Pigmentosum, Complementation Group G