Sturge-Weber Syndrome Linked to GNAQ Mutation
DOI:
https://doi.org/10.15844/pedneurbriefs-27-7-8Keywords:
Sturge-Weber Syndrome, Vascular Endothelial Cells, GNAQ MutationAbstract
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).Published
2013-07-01
Issue
Section
Neuromuscular Disorders
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