Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma

Diana C. Blaydon, Lisbet K. Lind, Vincent Plagnol, Kenneth J. Linton, Francis J. D. Smith, Neil J. Wilson, W. H. Irwin McLean, Colin S. Munro, Andrew P. South, Irene M. Leigh, Edel A. O'Toole, Anita Lundström, David P. Kelsell (Lead / Corresponding author)