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Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.
Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J. Shirley MD, et al. Among authors: north pe. N Engl J Med. 2013 May 23;368(21):1971-9. doi: 10.1056/NEJMoa1213507. Epub 2013 May 8. N Engl J Med. 2013. PMID: 23656586 Free PMC article.
Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research.
Comi AM, Sahin M, Hammill A, Kaplan EH, Juhász C, North P, Ball KL, Levin AV, Cohen B, Morris J, Lo W, Roach ES; 2015 Sturge-Weber Syndrome Research Workshop. Comi AM, et al. Pediatr Neurol. 2016 May;58:12-24. doi: 10.1016/j.pediatrneurol.2015.11.009. Epub 2016 Mar 16. Pediatr Neurol. 2016. PMID: 27268758 Free PMC article.
A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome.
De la Torre AJ, Luat AF, Juhász C, Ho ML, Argersinger DP, Cavuoto KM, Enriquez-Algeciras M, Tikkanen S, North P, Burkhart CN, Chugani HT, Ball KL, Pinto AL, Loeb JA. De la Torre AJ, et al. Pediatr Neurol. 2018 Jul;84:11-20. doi: 10.1016/j.pediatrneurol.2018.04.005. Epub 2018 Apr 18. Pediatr Neurol. 2018. PMID: 29803545 Free PMC article. Review.
110 results