L
Liselot Van Hest
Publications - 1
Citations - 357
Liselot Van Hest is an academic researcher. The author has contributed to research in topics: Penetrance & Parkes Weber syndrome. The author has an hindex of 1, co-authored 1 publications receiving 319 citations.
Papers
More filters
Journal ArticleDOI
Parkes Weber syndrome, vein of galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
Nicole Revencu,Laurence M. Boon,John B. Mulliken,Odile Enjolras,Maria R. Cordisco,Patricia E. Burrows,Philippe Clapuyt,Frank Hammer,Josée Dubois,Eulalia Baselga,Francesco Brancati,Robin Carder,José Miguel Ceballos Quintal,Bruno Dallapiccola,Gayle Fischer,Ilona J. Frieden,Maria C. Garzon,John Harper,Jennifer Johnson-Patel,Christine Labrèze,Loreto Martorell,Harriet J. Paltiel,Annette Pohl,Julie S. Prendiville,Isabelle Quéré,Dawn H. Siegel,Enza Maria Valente,Annet Van Hagen,Liselot Van Hest,Keith K. Vaux,Asunción Vicente,Lisa Weibel,David Chitayat,Miikka Vikkula +33 more
TL;DR: This first extensive study on the phenotypes associated with RASA1 mutations, and unravels their wide heterogeneity is reported, finding some CM‐AVM patients had neural tumors reminiscent of neurofibromatosis type 1 or 2.