Article
Xeroderma pigmentosa: three new cases with an in depth review of the genetic and clinical characteristics of the disease.
Fetal and pediatric pathology - 1 Apr 2015
Karass Michael, Naguib Mina M, Elawabdeh Nancy, Cundiff Caitlin A, Thomason Jenna, Steelman Charlotte Katherine, Cone Ryan, Schwenkter Ann, Jordan Caroline, Shehata Bahig M
Abstract excerpt
Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by hypersensitivity of the skin and eyes to UV-radiation as a result of a defect in one of eight genes. Seven genes (XPA-XPG) have a defect in Nucletoide Excision Repair (NER), while the eighth gene XPV has a defect in polymerase η, which is responsible for replication of UV-damaged DNA to produce corrected daughter strands. We...
Topics
- Brain
- Child
- Child, Preschool
- DNA Damage
- DNA Repair
- Female
- Humans
- Mutation
- Xeroderma Pigmentosum