Article
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
Carcinogenesis - 1 Jun 1993
Stefanini M, Lagomarsini P, Giliani S, Nardo T, Botta E, Peserico A, Kleijer W J, Lehmann A R, Sarasin A
Abstract excerpt
Trichothiodystrophy (TTD) is a rare autosomal recessive disease characterized by brittle hair with reduced sulfur content, mental and physical retardation, a peculiar face and ichthyosis. Photosensitivity has been reported in approximately 20% of the cases in the literature. DNA repair investigations demonstrated that clinical photosensitivity is usually associated with an enhancement of the cellular...
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