Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

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 h...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2018
Materias:
Clinical Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873857/
https://www.ncbi.nlm.nih.gov/pubmed/29461977
http://dx.doi.org/10.1172/JCI98589

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