Genetic Cause of Port-Wine Stain Birthmarks, Sturge-Weber Syndrome Determined, Kennedy Krieger Institute Study

Published: May 09, 2013

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In new findings published today in the New England Journal of Medicine, researchers from the Kennedy Krieger Institute reveal the discovery of the cause -- a genetic mutation that occurs before birth -- of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States.

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