A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts.

@article{ReamonBuettner2008ALM,
  title={A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts.},
  author={Stella Marie Reamon-Buettner and Yari Ciribilli and Alberto Inga and J{\"u}rgen Borlak},
  journal={Human molecular genetics},
  year={2008},
  volume={17 10},
  pages={
          1397-405
        }
}
Hypoplasia of the human heart is the most severe form of congenital heart disease (CHD) and usually lethal during early infancy. It is a leading cause of neonatal loss, especially in infants diagnosed with hypoplastic left heart syndrome (HLHS), a condition where the left side of the heart including the aorta, aortic valve, left ventricle (LV) and mitral valve are underdeveloped. The molecular causes of HLHS are unclear, but the basic helix-loop-helix (bHLH) transcription factor heart and… CONTINUE READING

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