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

Pawaree Saisawat, Stefan Kohl, Alina C. Hilger, Daw Yang Hwang, Heon Yung Gee, Gabriel C. Dworschak, Velibor Tasic, Tracie Pennimpede, Sivakumar Natarajan, Ethan Sperry, Danilo S. Matassa, Nataša Stajić, Radovan Bogdanovic, Ivo De Blaauw, Carlo L.M. Marcelis, Charlotte H.W. Wijers, Enrika Bartels, Eberhard Schmiedeke, Dominik Schmidt, Stefanie MärzheuserSabine Grasshoff-Derr, Stefan Holland-Cunz, Michael Ludwig, Markus M. Nöthen, Markus Draaken, Erwin Brosens, Hugo Heij, Dick Tibboel, Bernhard G. Herrmann, Benjamin D. Solomon, Annelies De Klein, Iris A.L.M. Van Rooij, Franca Esposito, Heiko M. Reutter, Friedhelm Hildebrandt

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Medicine & Life Sciences