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Scott, C. A.; O'Toole, E. A.; Mohungoo, M. J.; Messenger, A.; Kelsell, D. P.
Clinical and experimental dermatology, 01/2011, Letnik: 36, Številka: 1Journal Article
Summary Erythrokeratoderma variabilis (EKV) is characterized by fixed hyperkeratotic plaques and transient erythema. Mutations in the genes GJB3 and GJB4, which encode connexin (Cx)31 and Cx30.3, are associated with EKV. We report one novel mutation in Cx31 and one recurrent mutation in Cx30.3 in two different families. One novel rare sequence variant of unknown clinical significance was also identified. This finding extends the spectrum of known EKV‐associated mutations.
