Sturge-Weber Syndrome Linked to GNAQ Mutation

J Gordon Millichap

doi:10.15844/pedneurbriefs-27-7-8

Sturge-Weber Syndrome Linked to GNAQ Mutation

Pediatric Neurology Briefs

Volume 27 (2013): Issue 7

By: J Gordon Millichap

Open Access

|Jul 2013

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).

References

Shirley MD Tang H Gallione CJ Baugher JD Frelin LP Cohen B Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ N Engl J Med 2013 May 23 368 21 1971 9 10.1056/NEJMoa1213507 23656586
Open DOI Search in Google Scholar Back to article
Ch’ng S Tan ST Facial port-wine stains - clinical stratification and risks of neuro-ocular involvement J Plast Reconstr Aesthet Surg 2008 Aug 61 8 889 93 10.1016/j.bjps.2007.05.011 17604243
Open DOI Search in Google Scholar Back to article

Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-27-7-8 | Journal eISSN: 2166-6482

Journal RSS Feed

Language: English

Page range: 54 - 54

Published on: Jul 1, 2013

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Sturge-Weber Syndrome,

Vascular Endothelial Cells,

GNAQ Mutation

© 2013 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 27 (2013): Issue 7