Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease


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Imahorn E., Yuksel Z., Spoerri I., Gurel G., Imhof C., Saracoglu Z. N. , ...More

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, vol.31, no.10, pp.1722-1726, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 31 Issue: 10
  • Publication Date: 2017
  • Doi Number: 10.1111/jdv.14431
  • Title of Journal : JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
  • Page Numbers: pp.1722-1726

Abstract

BackgroundEpidermodysplasia verruciformis (EV) is a genodermatosis leading to infections with cutaneous HPV, persistent plane warts and a high rate of non-melanoma skin cancer (NMSC). Biallelic loss-of-function mutations in TMC6 and TMC8 are known to be causative.