Browsing Institutt for klinisk medisin by Author "Uchiyama, Yuri"

Now showing items 1-1 of 1

  • A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome 
    Fjær, Roar; Marciniak, Katarzyna; Sundnes, Olav; Hjorthaug, Hanne; Sheng, Ying; Hammarström, Clara Louise; Sitek, Jan Cezary; Vigeland, Magnus Dehli; Backe, Paul Hoff; Øye, Ane-Marte; Hol, Johanna; Stav-Noraas, Tor Espen; Uchiyama, Yuri; Matsumoto, Naomichi; Comi, Anne; Pevsner, Jonathan; Haraldsen, Guttorm; Selmer, Kaja Kristine (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2021)
    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 ...