Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities.

@article{Dworschak2015GenomewideMO,
  title={Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities.},
  author={Gabriel C. Dworschak and Markus Draaken and Alina C Hilger and Charlotte Schramm and Enrika Bartels and Eberhard Schmiedeke and Sabine Grasshoff-Derr and Stefanie Maerzheuser and Stefan Gerhard Holland-Cunz and Martin Lacher and Ekkehart Jenetzky and Nadine Zwink and Dominik Schmidt and Markus M. N{\"o}then and Michael Ludwig and Heiko Reutter},
  journal={Birth defects research. Part A, Clinical and molecular teratology},
  year={2015},
  volume={103 4},
  pages={
          235-42
        }
}
BACKGROUND Anorectal malformations (ARM) have a prevalence of around 1 in 2500 live births. In around 50% of patients, the malformation is isolated, while in the remainder it arises within the context of complex genetic abnormalities or a defined genetic syndrome. Recent studies have implicated rare copy number variations (CNVs) in both isolated and nonisolated ARM, and identified plausible candidate genes. METHODS In the present study, array-based molecular karyotyping was performed to… CONTINUE READING

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The Challenges of the European Anorectal Malformations-Net Registry.

  • European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie
  • 2015