TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype.

@article{Danoff2004TFIIIAC,
  title={TFII-I, a candidate gene for Williams syndrome cognitive profile: parallels between regional expression in mouse brain and human phenotype.},
  author={Sonye K Danoff and Harry E. Taylor and Seth Blackshaw and Stephen V. Desiderio},
  journal={Neuroscience},
  year={2004},
  volume={123 4},
  pages={931-8}
}
The gene for TFII-I, a widely expressed transcription factor, has been localized to an interval of human chromosome 7q11.23 that is commonly deleted in Williams syndrome (WS). The clinical phenotype of WS includes elfin facies, infantile hypercalcemia, supravalvular aortic stenosis, hyperacusis and mental retardation. The WS cognitive profile (WSCP) is notable for the differential impairment of visual-spatial abilities with relative sparing of verbal-linguistic function. Fine mapping of… CONTINUE READING