GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease.

@article{Pehlivan1999GATA4HI,
  title={GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease.},
  author={Tugce Pehlivan and Barbara R Pober and Martina Brueckner and Stephen Garrett and Rachel Slaugh and R Van Rheeden and David B. Wilson and Michael S. Watson and Anne V. Hing},
  journal={American journal of medical genetics},
  year={1999},
  volume={83 3},
  pages={201-6}
}
Previous studies have shown that patients with deletion of distal human chromosome arm 8p may have congenital heart disease and other physical anomalies. The gene encoding GATA-4, a zinc finger transcription factor implicated in cardiac gene expression and development, localizes to chromosome region 8p23.1. To examine whether GATA-4 deficiency is present in patients with monosomy of 8p23.1 with congenital heart disease, we performed fluorescence in situ hybridization (FISH) with a GATA4 probe… CONTINUE READING
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