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

por 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
Publicado 2021

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

por Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, Vasudevan, Pradeep, Devriendt, Koen, de Ravel, Thomy JL, Van Esch, Hilde, Casteels, Ingele, Arroyo Carrera, Ignacio, Cristofoli, Francesca, Fieggen, Karen, Jones, Katheryn, Lipson, Mark, Balikova, Irina, Singer, Ami, Soller, Maria, Mercedes Villanueva, María, Revencu, Nicole, Boon, Laurence M, Brouillard, Pascal, Vikkula, Miikka
Publicado 2015