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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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Pubblicato in:PLoS Genet
Autori principali: Draaken, Markus, Knapp, Michael, Pennimpede, Tracie, Schmidt, Johanna M., Ebert, Anne-Karolin, Rösch, Wolfgang, Stein, Raimund, Utsch, Boris, Hirsch, Karin, Boemers, Thomas M., Mangold, Elisabeth, Heilmann, Stefanie, Ludwig, Kerstin U., Jenetzky, Ekkehart, Zwink, Nadine, Moebus, Susanne, Herrmann, Bernhard G., Mattheisen, Manuel, Nöthen, Markus M., Ludwig, Michael, Reutter, Heiko
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4357422/
https://ncbi.nlm.nih.gov/pubmed/25763902
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1005024
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