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Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.
|Title||Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.|
|Publication Type||Journal Article|
|Year of Publication||2013|
|Authors||Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J|
|Journal||The New England journal of medicine|
|Date Published||2013 May 23|
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, seizures, stroke, and intellectual disability. It has been hypothesized that somatic mosaic mutations disrupting vascular development cause both the Sturge-Weber syndrome and port-wine stains, and the severity and extent of presentation are determined by the developmental time point at which the mutations occurred. To date, no such mutation has been identified.
|Alternate Journal||N. Engl. J. Med.|