Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies
NOTCH1受体单倍体功能不全可导致伴有不同程度心脏畸形的亚当斯-奥利弗综合征
期刊:Circulation-Cardiovascular Genetics
影响因子:
doi:10.1161/CIRCGENETICS.115.001086
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, M Cristina; Graul-Neumann, Luitgard M; Salviati, Leonardo; Coerdt, Wiltrud; Jacquemin, Emmanuel; Wuyts, Wim; Zenker, Martin; Machado, Rajiv D; Trembath, Richard C
