Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.

@article{Broughton2001TwoIW,
  title={Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.},
  author={Bernard C. Broughton and Mark Berneburg and Heather Fawcett and Elaine M. Taylor and Colin F Arlett and Tiziana Nardo and M. Stefanini and Emory Menefee and Vera H. Price and Sophie Queille and Alain Sarasin and Elisabeth Bohnert and Jean Krutmann and Rosemarie Davidson and Kenneth H Kraemer and A. R. Lehmann},
  journal={Human molecular genetics},
  year={2001},
  volume={10 22},
  pages={2539-47}
}
The xeroderma pigmentosum group D (XPD) protein is a subunit of transcription factor TFIIH with DNA helicase activity. TFIIH has two functions, in basal transcription and nucleotide excision repair. Mutations in XPD that affect DNA repair but not transcription result in the skin cancer-prone disorder, xeroderma pigmentosum (XP). If transcription is also affected, the result is the multi-system disorder trichothiodystrophy (TTD), in which there is no skin cancer predisposition, or in rare cases… CONTINUE READING

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