Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum

Int J Dermatol. 2015 Nov;54(11):e487-91. doi: 10.1111/ijd.13022. Epub 2015 Jul 30.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • DNA-Binding Proteins / genetics*
  • Female
  • Genetic Testing
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis
  • Xeroderma Pigmentosum / genetics*
  • Young Adult

Substances

  • DNA-Binding Proteins
  • XPC protein, human