Authors: Kelsell, P. David Norgett, E. Elizabeth Unsworth, Harriet Teh, Muy-Teck Cullup, Thomas Mein, Charles A. Dopping-Hepenstal, J. Patricia Dale, A. Beverly Tadini, Gianluca Fleckman, Philip Stephens, G. Karen Sybert, P. Virginia Mallory, B. Susan North, Bernard V. Witt, David R. Sprecher, Elii Taylor, Aileen E.M. Ilchyshyn, Andrew Kennedy, Cameron T. Goodyear, Helen Moss, Celia Paige, David Harper, John I. Young, Brian D. Leigh, Irene M. Eady, Robin A.J. O'Toole, Edel A.

Citation: Kelsell, P. David et al., Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis, American journal of human genetics , 76(5), 2005, pp. 794-803