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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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| Publicat a: | Neuropediatrics |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2017
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| Matèries: | |
| Accés en línia: | 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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