Article
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
Human molecular genetics - 15 Oct 2014
Reutter Heiko, Draaken Markus, Pennimpede Tracie, Wittler Lars, Brockschmidt Felix F, Ebert Anne-Karolin, Bartels Enrika, Rösch Wolfgang, Boemers Thomas M, Hirsch Karin, Schmiedeke Eberhard, Meesters Christian, Becker Tim, Stein Raimund, Utsch Boris, Mangold Elisabeth, Nordenskjöld Agneta, Barker Gillian, Kockum Christina Clementsson, Zwink Nadine, Holmdahl Gundula, Läckgren Göran, Jenetzky Ekkehart, Feitz Wouter F J, Marcelis Carlo, Wijers Charlotte H W, Van Rooij Iris A L M, Gearhart John P, Herrmann Bernhard G, Ludwig Michael, Boyadjiev Simeon A, Nöthen Markus M, Mattheisen Manuel
Abstract excerpt
Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most...
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