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

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

2015-01-01