Article
Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.
The Journal of investigative dermatology - 1 Mar 2006
Terron-Kwiatkowski Ana, van Steensel Maurice A M, van Geel Michel, Lane E Birgitte, McLean W H Irwin, Steijlen Peter M
Abstract excerpt
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant genodermatosis characterized by epidermolytic hyperkeratosis restricted to the palm and sole epidermis. The disorder is normally associated with dominant-negative mutations in the keratin 9 (K9) gene; however, a small number of cases have been reported where causative mutations were identified in the K1 gene. Here, we present two unrelated...
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