Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth

PURPOSE: Somatic activating variants in the PI3K-AKT pathway cause vascular malformations with and without overgrowth. We previously reported an individual with capillary and lymphatic malformation harboring a pathogenic somatic variant in PIK3R1, which encodes three PI3K complex regulatory subunits...

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Detalles Bibliográficos
Autores principales: Cottrell, Catherine E., Bender, Nicole R., Zimmermann, Michael T., Heusel, Jonathan W., Corliss, Meagan, Evenson, Michael J., Magrini, Vincent, Corsmeier, Donald J., Avenarius, Matthew, Dudley, Jeffrey N., Johnston, Jennifer J., Lindhurst, Marjorie J., Vigh-Conrad, Katinka, Davies, Olivia M. T., Coughlin, Carrie C., Frieden, Ilona J., Tollefson, Megha, Zaenglein, Andrea L., Ciliberto, Heather, Tosi, Laura L., Semple, Robert K., Biesecker, Leslie G., Drolet, Beth A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8486672/
https://www.ncbi.nlm.nih.gov/pubmed/34040190
http://dx.doi.org/10.1038/s41436-021-01211-z

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