Novel compound heterozygous variants in the XPC gene identified in a Chinese xeroderma pigmentosum group C patient with ovarian teratoma

J Dermatol. 2018 Nov;45(11):e300-e301. doi: 10.1111/1346-8138.14340. Epub 2018 Apr 25.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Asian People / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Exome Sequencing
  • Female
  • Heterozygote
  • Humans
  • Ovarian Neoplasms / complications
  • Ovarian Neoplasms / genetics*
  • Pedigree
  • Teratoma / complications
  • Teratoma / genetics*
  • Xeroderma Pigmentosum / complications
  • Xeroderma Pigmentosum / genetics*

Substances

  • DNA-Binding Proteins
  • XPC protein, human

Supplementary concepts

  • Teratoma, Ovarian
  • Xeroderma Pigmentosum, Complementation Group C

Associated data

  • GENBANK/NM_004628