A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect

@article{Fardoun2019ANS,
  title={A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect},
  author={Manal Fardoun and Hassan Dehaini and Amina Kamar and Fadi F Bitar and Marianne N Majdalani and Issam El-rassi and Georges Nemer and Mariam Arabi},
  journal={Pediatric Cardiology},
  year={2019},
  volume={40},
  pages={1084-1091}
}
Congenital heart defects (CHDs) are the leading cause of death in infants under 1 year of age. Aberrations in the expression and function of cardiac transcription factors (TFs) are a major contributor to CHDs. Despite the numerous studies undertaken to functionally characterize these TFs, their exact role in different stages of cardiogenesis is still not fully elucidated. Here we focused on HEY2, a basic helix loop helix transcriptional repressor, and its potential role in human ventricular… CONTINUE READING
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