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Discovery of Gene Mutation causing Sturge-Weber Syndrome, Port-Wine Stain Birthmarks Offers Hope

Thursday, May 09, 2013

Baltimore, Md. -- In new findings published today in the New England Journal of Medicine (Epub ahead of print), 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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From the National Center for Advancing Translational Sciences

From the National Institutes of Health

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