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

20131,078 citationsJournal Articlebronze Open Access

Authors

Matthew D. Shirley · Kennedy Krieger Institute

Hao Tang · Duke Medical Center

Carol J. Gallione · Duke University Hospital

Joseph D. Baugher · Kennedy Krieger Institute

Laurence P. Frelin · Kennedy Krieger Institute

Bernard A. Cohen

Paula E. North · Medical College of Wisconsin

Abstract

The Sturge-Weber syndrome and port-wine stains are caused by a somatic activating mutation in GNAQ. This finding confirms a long-standing hypothesis. (Funded by the National Institutes of Health and Hunter's Dream for a Cure Foundation.).

Topics & Keywords

Vascular Malformations and Hemangiomas Vascular Malformations Diagnosis and Treatment Histiocytic Disorders and Treatments

Publication Details

Published in: New England Journal of Medicine

Volume 368, Issue 21, pp. 1971-1979

DOI: 10.1056/nejmoa1213507

Field-Weighted Citation Impact: 71.01

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

Authors

Abstract

Topics & Keywords

Publication Details