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Article

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

25 Jan 2008

Abstract excerpt

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...

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PMID: 18276607
DOI: 10.1093/hmg/ddn027

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Related research

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Research trail→

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A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human heartsPMID 18276607Read ↗

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A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis.Semantic proximity Read ↗

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Hand factor ablation causes defective left ventricular chamber development and compromised adult cardiac function.Semantic proximity Read ↗

Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects.Semantic proximity Read ↗

Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome.Semantic proximity Read ↗

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