Discovery of gene mutation causing Sturge-Weber syndrome, port-wine stain birthmarks offers new hope

(Kennedy Krieger Institute) In new findings published 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.
Source: EurekAlert! - Social and Behavioral Science - Category: Global & Universal Source Type: news