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Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
BACKGROUND: The Sturge–Weber syndrome is a sporadic congenital neurocutaneous disorder characterized by a port-wine stain affecting the skin in the distribution of the ophthalmic branch of the trigeminal nerve, abnormal capillary venous vessels in the leptomeninges of the brain and choroid, glaucoma...
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| Autors principals: | , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3749068/ https://ncbi.nlm.nih.gov/pubmed/23656586 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1213507 |
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