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14. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. Am J Hum Genet; 2002 May; 70(5):1341-8. PubMed ID: 11912510 [Abstract] [Full Text] [Related]
20. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mese G, Sellitto C, Li L, Wang HZ, Valiunas V, Richard G, Brink PR, White TW. Mol Biol Cell; 2011 Dec; 22(24):4776-86. PubMed ID: 22031297 [Abstract] [Full Text] [Related] Page: [Next] [New Search]