Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in <i>GNAQ</i>

D. Shirley, Matthew; Tang, Hao; J. Gallione, Carol; D. Baugher, Joseph; P. Frelin, Laurence; A. Cohen, Bernard; E. North, Paula; A. Marchuk, Douglas; M. Comi, Anne; Pevsner, Jonathan

doi:10.1056/nejmoa1213507

Public

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

Published in New England Journal of Medicine • May 8, 2013

Authors:

Matthew D. Shirley

Hao Tang

Carol J. Gallione

Abstract

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...

Subject

Sturge–Weber syndrome

GNAQ

Medicine

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