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Article

CNV analysis in monozygotic twin pairs discordant for urorectal malformations.

Twin research and human genetics : the official journal of the International Society for Twin Studies - 1 Aug 2013

Baudisch Friederike, Draaken Markus, Bartels Enrika, Schmiedeke Eberhard, Bagci Soyhan, Bartmann Peter, Nöthen Markus M, Ludwig Michael, Reutter Heiko

Abstract excerpt

Early post-twinning mutational events can account for discordant phenotypes in monozygotic (MZ) twin pairs. Such mutational events may comprise genomic alterations of different sizes, ranging from single nucleotides to large copy-number variations (CNVs). Anorectal malformations (ARM) and the bladder exstrophy-epispadias complex (BEEC) represent the most severe end of the urorectal malformation spectrum....

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PMID: 23659922
DOI: 10.1017/thg.2013.29

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