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Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA

Disorganized morphogenesis of arteries, veins, capillaries, and lymphatic vessels results in vascular malformations. Most individuals with isolated vascular malformations have postzygotic (mosaic), activating pathogenic variants in a handful of oncogenes within the PI3K–RAS–MAPK pathway (Padia et al...

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Detalles Bibliográficos
Autores principales:	Sheppard, Sarah E., Sanders, Victoria R., Srinivasan, Abhay, Finn, Laura S., Adams, Denise, Elton, Andrew, Amlie-Lefond, Catherine, Nelson, Zoe, Dmyterko, Victoria, Jensen, Dana, Zenner, Kaitlyn, Perkins, Jonathan, Bennett, James T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2021
Materias:	Rapid Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751408/ https://www.ncbi.nlm.nih.gov/pubmed/34887309 http://dx.doi.org/10.1101/mcs.a006147

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