Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts

@article{Veenma2012CopyND,
  title={Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts},
  author={Danielle C M Veenma and Erwin Brosens and Elisabeth M. de Jong and Cees P. van de Ven and Connie Meeussen and Titia E Cohen-Overbeek and Marjan Boter and Hubertus J F M M Eussen and Hannie J C W Douben and D Tibboel and Annelies de Klein},
  journal={European Journal of Human Genetics},
  year={2012},
  volume={20},
  pages={298-304}
}
The occurrence of phenotypic differences between monozygotic (MZ) twins is commonly attributed to environmental factors, assuming that MZ twins have a complete identical genetic make-up. Yet, recently several lines of evidence showed that both genetic and epigenetic factors could have a role in phenotypic discordance after all. A high occurrence of copy number variation (CNV) differences was observed within MZ twin pairs discordant for Parkinson's disease, thereby stressing on the importance of… CONTINUE READING