Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations

BACKGROUND: Theragnostic management, treatment according to precise pathological molecular targets, requests to unravel patients’ genotypes. We used targeted next-generation sequencing (NGS) or digital droplet polymerase chain reaction (ddPCR) to screen for somatic PIK3CA mutations on DNA extracted...

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Detalles Bibliográficos
Autores principales: Brouillard, Pascal, Schlögel, Matthieu J., Homayun Sepehr, Nassim, Helaers, Raphaël, Queisser, Angela, Fastré, Elodie, Boutry, Simon, Schmitz, Sandra, Clapuyt, Philippe, Hammer, Frank, Dompmartin, Anne, Weitz-Tuoretmaa, Annamaria, Laranne, Jussi, Pasquesoone, Louise, Vilain, Catheline, Boon, Laurence M., Vikkula, Miikka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8194016/
https://www.ncbi.nlm.nih.gov/pubmed/34112235
http://dx.doi.org/10.1186/s13023-021-01898-y

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