Isolated supravalvular aortic stenosis: Functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

Zsolt Urbán, Virginia V. Michels, Stephen N. Thibodeau, Elaine C. Davis, Jean Paul Bonnefont, Arnold Munnich, Benedicte Eyskens, Marc Gewillig, Koen Devriendt, Charles D. Boyd

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Medicine & Life Sciences