Titre:
  • Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations
Auteur:Brouillard, Pascal; Schlögel, Matthieu M.J.; Homayun Sepehr, Nassim; Helaers, Raphaël; Queisser, Angela; Fastré, Elodie; Boutry, Simon; Schmitz, S.; Clapuyt, Philippe; Hammer, Frank; Dompmartin, A.; Weitz-Tuoretmaa, Annamaria; Laranne, Jussi; Pasquesoone, Louise; Vilain, Catheline; Boon, Laurence Myriam; Vikkula, Mikka
Informations sur la publication:Orphanet journal of rare diseases, 16, 1, 267
Statut de publication:Publié, 2021-12
Sujet CREF:Génétique clinique
Pharmacologie
Sciences bio-médicales et agricoles
Mots-clés:Allele
Epidemiology
Frequency
Gene
Isolated
Lymphatic malformation
Mutation
PI3K
Somatic
Theragnostic
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1750-1172
info:doi/10.1186/s13023-021-01898-y
info:scp/85107823561
info:pmid/34112235