@article{29abcdfa262142848b029717ad9395be,
title = "Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome",
author = "Jeremy Thorpe and Frelin, {Laurence P.} and Meghan McCann and Pardo, {Carlos A.} and Cohen, {Bernard A.} and Comi, {Anne M.} and Jonathan Pevsner",
note = "Funding Information: We thank the individuals with Sturge-Weber syndrome and their families for participating in this study. We are grateful to the National Institutes of Health (NIH) NeuroBioBank for providing us the samples. We thank Macrogen Clinical Laboratories for kindly donating resources (to JP) to perform whole exome sequencing. We thank N. Varg for helpful discussions. AMC was supported by funding from the Celebrate Hope Foundation and the Faneca 66 Foundation . JP was supported by NIH grants U01 MH106884 and U54 HD079123 and by the Sturge-Weber Foundation . This work was supported by grants from the NIH (Lawton, Comi, and Marchuk) (grant number U54NS065705 ). The Brain Vascular Malformation Consortium (grant number U54NS065705 ) is a part of the NIH Rare Diseases Clinical Research Network, supported through the collaboration between the NIH Office of Rare Diseases Research at the National Center for Advancing Translational Science and the National Institute of Neurological Disorders and Stroke. ",
year = "2020",
doi = "10.1016/j.jid.2020.03.978",
language = "English (US)",
journal = "Journal of Investigative Dermatology",
issn = "0022-202X",
publisher = "Nature Publishing Group",
}