The Association of Xeroderma Pigmentosum with Trichothiodystrophy: A Clue to a Better Understanding of XP-D?

  • Fiorella Nuzzo
  • Miria Stefanini


In 1986 we reported the results of DNA repair investigations in patients showing acute photosensitivity and clinical traits of the rare hereditary disorder trichothiodystrophy (TTD) (Stefanini et al. 1986). Cells from these patients showed a reduced capacity to repair the UV-induced DNA damage similar to that present in individuals affected by xeroderma pigmentosum (XP) and the complementation analysis demonstrated that the repair defect was the same present in XP, complementation group D (XP-D).


Actinic Keratosis Xeroderma Pigmentosum Complementation Group Cockayne Syndrome Brittle Hair 
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Copyright information

© Springer Science+Business Media New York 1989

Authors and Affiliations

  • Fiorella Nuzzo
    • 1
  • Miria Stefanini
    • 1
  1. 1.Istituto di Genetica Biochimica ed EvoluzionisticaCNRPaviaItaly

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