Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
HEY2功能域的种系变异会导致先天性心脏缺陷和胸主动脉瘤。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-00939-4
van Walree, Eva S; Dombrowsky, Gregor; Jansen, Iris E; Mirkov, Maša Umićević; Zwart, Rob; Ilgun, Aho; Guo, Dongchuan; Clur, Sally-Ann B; Amin, Ahmed S; Savage, Jeanne E; van der Wal, Allard C; Waisfisz, Quinten; Maugeri, Alessandra; Wilsdon, Anna; Bu'Lock, Frances A; Hurles, Matthew E; Dittrich, Sven; Berger, Felix; Audain Martinez, Enrique; Christoffels, Vincent M; Hitz, Marc-Philip; Milewicz, Dianna M; Posthuma, Daniëlle; Meijers-Heijboer, Hanne; Postma, Alex V; Mathijssen, Inge B