Somatic GNAQ mutation is enriched in brain endothelial cells in Sturge-Weber Syndrome

BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin...

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Udgivet i:Pediatr Neurol
Main Authors: Huang, Lan, Couto, Javier A., Pinto, Anna, Alexandrescu, Sanda, Madsen, Joseph R., Greene, Arin K., Sahin, Mustafa, Bischoff, Joyce
Format: Artigo
Sprog:Inglês
Udgivet: 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5303551/
https://ncbi.nlm.nih.gov/pubmed/27919468
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2016.10.010
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