Somatic Activating PIK3CA Mutations Cause Venous Malformation

Por Limaye, Nisha, Kangas, Jaakko, Mendola, Antonella, Godfraind, Catherine, Schlögel, Matthieu J., Helaers, Raphael, Eklund, Lauri, Boon, Laurence M., Vikkula, Miikka
Publicado no Am J Hum Genet (2015)

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 no Orphanet J Rare Dis (2015)