Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome von Richard, Gabriele, Rouan, Fatima, Willoughby, Colin E., Brown, Nkecha, Chung, Pil, Ryynänen, Markku, Jabs, Ethylin Wang, Bale, Sherri J., DiGiovanna, John J., Uitto, Jouni, Russell, Laura

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Expanding The Phenotypic Spectrum of Cx26 Disorders: Bart–Pumphrey Syndrome is Caused by a Novel Missense Mutation in GJB2 von Richard, Gabriele, Brown, Nkecha, Ishida-Yamamoto, Akemi, Krol, Alfons

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trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation von Rouan, F, White, T W, Brown, N, Taylor, A M, Lucke, T W, Paul, D L, Munro, C S, Uitto, J, Hodgins, M B, Richard, G

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Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations von Richard, Gabriele, Brown, Nkecha, Rouan, Fatima, Campanelli, Carmen, Uitto, Jouni, Van der Schroeff, Jan-Gerrit, Bijlsma, Emilia, Eichenfield, Lawrence F., Sybert, Virginia P., Greer, Kenneth E., Hogan, Peter, Compton, John G., Bale, Sherri J., DiGiovanna, John J.

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The spectrum of mutations in erythrokeratodermias - novel and de novo mutations in GJB3 von Richard, G., Brown, N., Smith, L.E., Terrinoni, A., Melino, G., MacKie, R.M., Bale, S.J., Uitto, J.

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Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-lchthyosis-deafness syndrome von RICHARD, Gabriele, ROUAN, Fatima, RUSSELL, Laura, WILLOUGHBY, Colin E, BROWN, Nkecha, CHUNG, Pil, RYYNÄNEN, Markku, JABS, Ethylin Wang, BALE, Sherri J, DIGIOVANNA, John J, UITTO, Jouni

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