Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
RAS/MAPK嵌合变异会导致散发性血管畸形,这些畸形对靶向治疗有反应。
期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI124649
Al-Olabi, Lara; Polubothu, Satyamaanasa; Dowsett, Katherine; Andrews, Katrina A; Stadnik, Paulina; Joseph, Agnel P; Knox, Rachel; Pittman, Alan; Clark, Graeme; Baird, William; Bulstrode, Neil; Glover, Mary; Gordon, Kristiana; Hargrave, Darren; Huson, Susan M; Jacques, Thomas S; James, Gregory; Kondolf, Hannah; Kangesu, Loshan; Keppler-Noreuil, Kim M; Khan, Amjad; Lindhurst, Marjorie J; Lipson, Mark; Mansour, Sahar; O'Hara, Justine; Mahon, Caroline; Mosica, Anda; Moss, Celia; Murthy, Aditi; Ong, Juling; Parker, Victoria E; Rivière, Jean-Baptiste; Sapp, Julie C; Sebire, Neil J; Shah, Rahul; Sivakumar, Branavan; Thomas, Anna; Virasami, Alex; Waelchli, Regula; Zeng, Zhiqiang; Biesecker, Leslie G; Barnacle, Alex; Topf, Maya; Semple, Robert K; Patton, E Elizabeth; Kinsler, Veronica A