Article
Novel TMC8 splice site mutation in epidermodysplasia verruciformis and review of HPV infections in patients with the disease.
Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Oct 2017
Imahorn E, Yüksel Z, Spoerri I, Gürel G, Imhof C, Saraçoğlu Z N, Koku Aksu A E, Rady P L, Tyring S K, Kempf W, Itin P H, Burger B
Abstract excerpt
BACKGROUND: Epidermodysplasia 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. OBJECTIVE: The aim of this study was to report EV-causing mutations in four patients with EV and to give an overview of all described patients with...
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