CNV analysis in 169 patients with bladder exstrophy-epispadias complex

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...

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Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2016
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4852408/
https://ncbi.nlm.nih.gov/pubmed/27138190
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0299-x
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