Article
Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype.
Human genetics - 1 Feb 1996
Itoh T, Cleaver J E, Yamaizumi M
Abstract excerpt
Two siblings have been reported whose clinical manifestations (cutaneous photosensitivity and central nervous system dysfunction) are strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum (XP), a severe form of XP. Fibroblasts from the siblings showed UV sensitivity, a failure of recovery of RNA synthesis (RRS) after UV-irradiation, and a normal level of unscheduled DNA...
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