1. 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 (August 2004)
DOI: /j X x
Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

2. 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  , DOI: ( /j X x)
Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

3. 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  , DOI: ( /j X x)
Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions