Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

A Novel N14Y Mutation in Connexin26 in Keratitis-Ichthyosis-Deafness Syndrome: Analyses of Altered Gap Junctional Communication and Molecular Structure of N Terminus of Mutated Connexin26

A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis-Ichthyosis-Deafness Syndrome