Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.

The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the uro-rectal malformation spectrum, and is thought to result from aberrant embryonic morphogenesis of the cloacal membrane and the urorectal septum. The most common form of BEEC is isolated classic bladder exstrophy (CBE)...

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Main Authors: Markus Draaken, Michael Knapp, Tracie Pennimpede, Johanna M Schmidt, Anne-Karolin Ebert, Wolfgang Rösch, Raimund Stein, Boris Utsch, Karin Hirsch, Thomas M Boemers, Elisabeth Mangold, Stefanie Heilmann, Kerstin U Ludwig, Ekkehart Jenetzky, Nadine Zwink, Susanne Moebus, Bernhard G Herrmann, Manuel Mattheisen, Markus M Nöthen, Michael Ludwig, Heiko Reutter
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-03-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC4357422?pdf=render