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MEF2C loss-of-function mutation contributes to congenital heart defects

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Congenital heart disease (CHD) is the most common type of developmental abnormality in humans, and is a leading cause for substantially increased morbidity and mortality in affected individuals. Increasing studies demonstrates a pivotal role of genetic defects in the pathogenesis of CHD, and presently mutations in more than 60 genes have been associated with CHD. | MEF2C loss-of-function mutation contributes to congenital heart defects

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