Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Laura Southgate, Maja Sukalo, Anastasios S V Karountzos, Edward J Taylor, Claire S Collinson, Deborah Ruddy, Katie M Snape, Bruno Dallapiccola, John L Tolmie, Shelagh Joss, Francesco Brancati, Maria Cristina Digilio, Luitgard M Graul-Neumann, Leonardo Salviati, Wiltrud Coerdt, Emmanuel Jacquemin, Wim Wuyts, Martin Zenker, Rajiv D Machado, Richard C Trembath

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Biochemistry, Genetics and Molecular Biology