Epidermolytic ichthyosis, Keratin, KRT1, Palmoplantar keratoderma
dx.doi.org/10.1111/exd.12786, hdl.handle.net/1765/90336
Experimental Dermatology
Department of Clinical Genetics

Nellen, R.G.L, Nagtzaam, I.F, Hoogeboom, A.J.M, Bladergroen, R.S, Jonkman, M.F, Steijlen, P.M, … van Geel, M. (2016). Phenotypic variation in epidermolytic ichthyosis: Clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1. Experimental Dermatology, 24(11), 883–885. doi:10.1111/exd.12786