Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome
Jeremy Thorpe, Laurence P. Frelin, Meghan McCann, Carlos A. Pardo, Bernard A. Cohen, Anne M. Comi, Jonathan Pevsner
Topics & Concepts
GNAQSturge–Weber syndromeBirthmarkOMIM : Online Mendelian Inheritance in ManMissense mutationMedicineMutationGermline mutationGeneticsDermatologyBiologyPhenotypeGeneVascular Malformations and HemangiomasTumors and Oncological CasesHistiocytic Disorders and Treatments