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CNV analysis in 169 patients with bladder exstrophy-epispadias complex

von Lowtzow, Catharina ; Hofmann, Andrea ; Zhang, Rong ; Marsch, Florian ; Ebert, Anne-Karoline ; Rösch, Wolfgang ; Stein, Raimund ; Boemers, Thomas M. ; Hirsch, Karin ; Marcelis, Carlo ; Feitz, Wouter F. J. ; Brusco, Alfredo ; Migone, Nicola ; Di Grazia, Massimo ; Moebus, Susanne ; Nöthen, Markus M. ; Reutter, Heiko ; Ludwig, Michael ; Draaken, Markus


Background: The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recurrent duplications of chromosomal region 22q11.21, in BEEC etiology. Methods: To detect further CNVs, array analysis was performed in 169 BEEC patients. Prior to inclusion, ...


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