GNAQ Mutation in the Venous Vascular Malformation and Underlying Brain Tissue in Sturge–Weber Syndrome

The recent identification of the somatic GNAQ mutation (c.548G > A) provides insight into the pathogenesis of Sturge–Weber syndrome (SWS). Although the primary SWS brain pathology is the leptomeningeal angiomatosis (LMA), cerebral cortical and white matter abnormalities play a prominent role in t...

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Gepubliceerd in:Neuropediatrics
Hoofdauteurs: Sundaram, Senthil K., Michelhaugh, Sharon K., Klinger, Neil V., Kupsky, William J., Sood, Sandeep, Chugani, Harry T., Mittal, Sandeep, Juhász, Csaba
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2017
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5587372/
https://ncbi.nlm.nih.gov/pubmed/28571101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1603515
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