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de Zwart-Storm EA, van Geel M, van Neer PAFA, Steijlen PM, Martin PE, van Steensel MAM. A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness. The American Journal of Pathology. 2008 Oct;173(4):1113–9. doi: 10.2353/ajpath.2008.080049. |