PITX2 loss-of-function mutation contributes to tetralogy of Fallot.

@article{Sun2016PITX2LM,
  title={PITX2 loss-of-function mutation contributes to tetralogy of Fallot.},
  author={Yu-min Sun and Jun Wang and Xing-biao Qiu and Fang Yuan and Ying-jia Xu and Ruo-gu Li and Xin-kai Qu and Ri-Tai Huang and Song Xue and Yi-Qing Yang},
  journal={Gene},
  year={2016},
  volume={577 2},
  pages={258-64}
}
Congenital heart disease (CHD) is the most prevalent developmental abnormality in humans and is the most common non-infectious cause of infant morbidity and mortality. Increasing evidence demonstrates that genetic defects are involved in the pathogenesis of CHD. However, CHD is genetically heterogeneous, and the genetic determinants underpinning CHD in most patients remain unknown. In this study, the whole coding region of the PITX2 gene (isoform c) was sequenced in 185 unrelated patients with… CONTINUE READING
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