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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Neuropediatrics
Main Authors: Sundaram, Senthil K., Michelhaugh, Sharon K., Klinger, Neil V., Kupsky, William J., Sood, Sandeep, Chugani, Harry T., Mittal, Sandeep, Juhász, Csaba
Format: Artigo
Sprog:Inglês
Udgivet: 2017
Fag:
Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker