A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma With Deafness
American Journal of Pathology - United States
doi 10.2353/ajpath.2008.080049
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Date
October 1, 2008
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Elsevier BV