Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

@article{Meng1998CompletePM,
  title={Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes},
  author={Xiangming Meng and Xiaojun Lu and Zhizhong Li and Eric D. Green and Hillary F. Massa and Barbara J. Trask and Colleen A. Morris and Mark T. Keating},
  journal={Human Genetics},
  year={1998},
  volume={103},
  pages={590-599}
}
Williams syndrome (WS) is a contiguous gene deletion disorder caused by haploinsufficiency of genes at 7q11.23 . We have shown that hemizygosity of elastin is responsible for one feature of WS, supravalvular aortic stenosis (SVAS). We have also implicated LIM-kinase 1 hemizygosity as a contributing factor to impaired visual-spatial constructive cognition in WS. However, the common WS deletion region has not been completely characterized, and genes for additional features of WS, including mental… CONTINUE READING

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