A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation  Maurice A.M. van Steensel, Peter M. Steijlen, Reno S. Bladergroen, Elisabeth H. Hoefsloot, Connie M. van Ravenswaaij-Arts, Michel van Geel, MD  Journal of Investigative Dermatology  Volume 123, Issue 2, Pages 291-293 (August 2004) DOI: 10.1111/j.0022-202X.2004.23204.x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 (a) Erythematous skin lesions arising after application of a brown adhesive bandage. (b) The fingernails are dystrophic. (c and d) The patient's phenotype. Note the frontal bossing in (d) and seemingly deep-set eyes. The hair is thinly implanted. Journal of Investigative Dermatology 2004 123, 291-293DOI: (10.1111/j.0022-202X.2004.23204.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 (a) Sequence traces showing the 44 C>G transversion mutation resulting in the substitution of asparagine 14 for a lysine. (b) CLUSTALX alignment of connexins from different mammalian species showing conservation of N14 (m=mouse, r=rat, h=human). Journal of Investigative Dermatology 2004 123, 291-293DOI: (10.1111/j.0022-202X.2004.23204.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions