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 (SCI-Expanded) identifier identifier identifier


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.