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2006•Journal of Investigative DermatologyOpen access

Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with “Tonotubular” Keratin

Ana Terron-Kwiatkowski, Maurice A. M. Van Steensel, Michel van Geel, Ellen Birgitte Lane, W.H. Irwin McLean, Peter Martin Steijlen

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Key concepts: Genodermatosis, Keratin 6A, Epidermolytic hyperkeratosis, Biology, Keratin, Genetics, Palmoplantar keratoderma, Hyperkeratosis

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Mutation S233L in the 1B Domain of Keratin 1 Causes Epidermolytic Palmoplantar Keratoderma with “Tonotubular” Keratin — Research Paper | ScholarLens