GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses.

Polubothu, SatyamaanasaAl-Olabi, LaraCarmen Del Boente, MariaChacko, AlishaEleftheriou, GeorgiosGlover, MaryJiménez-Gallo, DavidJones, Elizabeth ALomas, DebraFölster-Holst, ReginaSyed, SamiraTasani, MonikaThomas, AnnaTisdall, MartinTorrelo, AntonioAylett, SarahKinsler, Veronica A2023-02-082023-02-082019-12-12http://hdl.handle.net/10668/14830enCapillariesChildChild, PreschoolCohort StudiesFemaleGTP-Binding Protein alpha SubunitsGenetic Association StudiesGenotypeHumansInfantInfant, NewbornMaleMosaicismMutationPhenotypeProspective StudiesProtein DomainsSkinSkin PigmentationSturge-Weber SyndromeVascular MalformationsGNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses.research article31838126open access10.1016/j.jid.2019.10.0191523-1747PMC7187890http://www.jidonline.org/article/S0022202X19334785/pdfhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187890/pdf