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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Autori principali: Shirley, Matthew D., Tang, Hao, Gallione, Carol J., Baugher, Joseph D., Frelin, Laurence P., Cohen, Bernard, North, Paula E., Marchuk, Douglas A., Comi, Anne M., Pevsner, Jonathan
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2013
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Article
Accesso online: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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