A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge–Weber syndrome

Sturge–Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The discovery of a disease-causing somatic missense mutation in the GNAQ gene, encod...

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Detalles Bibliográficos
Autores principales: Fjær, Roar, Marciniak, Katarzyna, Sundnes, Olav, Hjorthaug, Hanne, Sheng, Ying, Hammarström, Clara, Sitek, Jan Cezary, Vigeland, Magnus Dehli, Backe, Paul Hoff, Øye, Ane-Marte, Fosse, Johanna Hol, Stav-Noraas, Tor Espen, Uchiyama, Yuri, Matsumoto, Naomichi, Comi, Anne, Pevsner, Jonathan, Haraldsen, Guttorm, Selmer, Kaja Kristine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522634/
https://www.ncbi.nlm.nih.gov/pubmed/34124757
http://dx.doi.org/10.1093/hmg/ddab144

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522634/
https://www.ncbi.nlm.nih.gov/pubmed/34124757
http://dx.doi.org/10.1093/hmg/ddab144

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