Publication | Open Access

A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma with Deafness

Skin DevelopmentSecond Extracellular DomainGenetic DisorderGeneticsMolecular GeneticsDermatologyExperimental DermatologyMedicineCell BiologyCell SignalingFocal Palmoplantar KeratodermaNovel Missense Mutation