The Williams-Beuren Syndrome—A Window into Genetic Variants Leading to the Development of Cardiovascular Disease

@inproceedings{Adams2012TheWS,
  title={The Williams-Beuren Syndrome—A Window into Genetic Variants Leading to the Development of Cardiovascular Disease},
  author={Gregory N. Adams and Alvin H Schmaier},
  booktitle={PLoS genetics},
  year={2012}
}
Williams-Beuren Syndrome (WBS) arises when there is a genomic microdeletion at human chromosome 7q11.23 (Mouse 5G2), resulting in various cardiovascular, developmental, metabolic, and mental disorders [1]. Cardiovascular complications from WBS are a frequent cause of death. The deleted region is predisposed to non-allelic homologous recombination (NAHR) due… CONTINUE READING