Ontology highlight
ABSTRACT:
SUBMITTER: von Lowtzow C
PROVIDER: S-EPMC4852408 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
von Lowtzow Catharina C Hofmann Andrea A Zhang Rong R Marsch Florian F Ebert Anne-Karoline AK Rösch Wolfgang W Stein Raimund R Boemers Thomas M TM Hirsch Karin K Marcelis Carlo C Feitz Wouter F J WF Brusco Alfredo A Migone Nicola N Di Grazia Massimo M Moebus Susanne S Nöthen Markus M MM Reutter Heiko H Ludwig Michael M Draaken Markus M
BMC medical genetics 20160430 1
<h4>Background</h4>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.<h4>Methods</h4>To detect further CNVs, array analysis was performed in 169 BEEC patients. Prior to inclusion, 22q11.21 duplications were excluded using multiplex ligation-dependent probe amplification.<h4 ...[more]