Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome

Abstract Background Sturge–Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation,...

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Autori principali:	May El Hachem, Andrea Diociaiuti, Angela Galeotti, Francesca Grussu, Elena Gusson, Alessandro Ferretti, Carlo Efisio Marras, Davide Vecchio, Simona Cappelletti, Mariasavina Severino, Carlo Gandolfo, Simone Reali, Rosa Longo, Carmen D’Amore, Lodovica Gariazzo, Federica Marraffa, Marta Luisa Ciofi Degli Atti, Maria Margherita Mancardi, and the Sturge-Weber Syndrome Multidisciplinary Group
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2025-01-01
Serie:	Orphanet Journal of Rare Diseases
Soggetti:	Sturge–Weber syndrome Capillary malformation Pulsed dye laser Glaucoma Epilepsy Intellectual disability
Accesso online:	https://doi.org/10.1186/s13023-024-03527-w
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