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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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| Publicado no: | Pediatr Neurol |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | 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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