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GNA11-mutated Sturge-Weber syndrome has distinct neurological and dermatological features.
Dompmartin, Anne; van der Vleuten, Carine J M; Dekeuleneer, Valérie; Duprez, Thierry; Revencu, Nicole; Désir, Julie; Te Loo, D Maroeska W M; Flucke, Uta; Eijkelenboom, Astrid; Schultze Kool, Leo; Vikkula, Miikka; Boon, Laurence.
Affiliation
  • Dompmartin A; Service Dermatologie CHU, Université Caen Normandie, Caen, France.
  • van der Vleuten CJM; Dermatology & Center for Vascular Anomalies, University Medical Center Nijmegen, Nijmegen, The Netherlands.
  • Dekeuleneer V; Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, Center for Vascular Anomalies, Brussels, Belgium.
  • Duprez T; Radiology, Cliniques universitaires Saint-Luc, Brussels, Belgium.
  • Revencu N; Human Genetics, Cliniques universitaires Saint-Luc, Brussels, Belgium.
  • Désir J; Erasmus Hospital, Human Genetics, Brussels, Belgium.
  • Te Loo DMWM; Radboudumc, Pediatric Haematology & Center Vascular Anomalies, Nijmegen, The Netherlands.
  • Flucke U; Radboudumc, Pathology & Center for Vascular Anomalies, Nijmegen, The Netherlands.
  • Eijkelenboom A; Radboudumc, Pathology & Center for Vascular Anomalies, Nijmegen, The Netherlands.
  • Schultze Kool L; Radboudumc, Radiology & Center for Vascular Anomalies, Nijmegen, The Netherlands.
  • Vikkula M; Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium.
  • Boon L; Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, Center for Vascular Anomalies, Brussels, Belgium.
Eur J Neurol ; 29(10): 3061-3070, 2022 10.
Article in En | MEDLINE | ID: mdl-35715928
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sturge-Weber Syndrome / GTP-Binding Protein alpha Subunits Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Eur J Neurol Journal subject: NEUROLOGIA Year: 2022 Document type: Article Affiliation country: France Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Sturge-Weber Syndrome / GTP-Binding Protein alpha Subunits Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Eur J Neurol Journal subject: NEUROLOGIA Year: 2022 Document type: Article Affiliation country: France Country of publication: United kingdom