Article
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
The Journal of clinical investigation - 2 Apr 2018
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
Abstract excerpt
BACKGROUND: Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain. Therapeutic options are severely limited, and multidisciplinary management remains challenging, particularly for high-flow arteriovenous malformations (AVM). METHODS: To investigate the pathogenesis of sporadic intracranial and...
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