Sturge-Weber Syndrome Linked to GNAQ Mutation

Abstract

Investigators from Johns Hopkins School of Medicine, the Hugo W Moser Research Institute at Kennedy Krieger, Baltimore; Duke University; and Medical College of Wisconsin, Milwaukee, performed whole-genome sequencing of DNA from paired samples of tissue from 3 persons with the Sturge-Weber syndrome (SWS).

Keywords

• sturge-weber syndrome
• vascular endothelial cells
• gnaq mutation