Pediatrics. 1977 Aug;60(2):135-9.

Cockayne syndrome: a cellular sensitivity to ultraviolet light.

Schmickel RD, Chu EH, Trosko JE, Chang CC.

Abstract

Two unrelated children, a boy 2 1/2 years old and a girl 4 years old, were affected with the cachectic dwarfism of Cockayne syndrome. Fibroblast cultures derived from these patients exhibited increased sensitivity to ultraviolet (UV) light, but not to x-irradiation, as measured by colony-forming ability. In both Cockayne fibroblast cultures, the rate of removal of thymidine dimer from the irradiated cellular DNA was normal. This demonstration of a cellular defect in Cockayne cells suggests that there may be an enzymatic defect in the repair of UV light-induced damage.

PMID:: 887325; [PubMed - indexed for MEDLINE]

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Cockayne syndrome: a cellular sensitivity to ultraviolet light.

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