Article
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes.
American journal of human genetics - 1 Apr 1992
Greenhaw G A, Hebert A, Duke-Woodside M E, Butler I J, Hecht J T, Cleaver J E, Thomas G H, Horton W A
Abstract excerpt
Two siblings are described whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma pigmentosum. An extensive clinical evaluation supported a diagnosis of DCS and documented previously unreported findings. In vitro fibroblast studies showed UV sensitivity that was two to three times that...
Topics
- Child
- Cockayne Syndrome
- DNA
- DNA Repair
- DNA Replication
- Diagnosis, Differential
- Female
- Humans
- Male
- Phenotype
- Photosensitivity Disorders