Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Authors: Pawaree Saisawat, Stefan Kohl, Alina C. Hilger, Daw‐Yang Hwang, Heon Yung Gee, Gabriel C. Dworschak, Velibor Tasić, Tracie Pennimpede, S. Natarajan, Ethan D. Sperry, Danilo Swann Matassa, Nataša Stajić, Radovan Bogdanović, Ivo de Blaauw, Carlo Marcelis, Charlotte H. W. Wijers, Enrika Bartels, Eberhard Schmiedeke, Dominik Schmidt, Stefanie Märzheuser, Sabine Grasshoff‐Derr, Stefan Holland‐Cunz, Michael Ludwig, Markus M. Nöthen, Markus Draaken, Erwin Brosens, Hugo A. Heij, Dick Tibboel, Bernhard G. Herrmann, Benjamin D. Solomon, Annelies de Klein, Iris A.L.M. van Rooij, Franca Esposito, Heiko Reutter, Friedhelm Hildebrandt - Kidney International 2013 cited by 128