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

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dc.contributor.authorPolubothu, Satyamaanasa
dc.contributor.authorAl-Olabi, Lara
dc.contributor.authorCarmen Del Boente, Maria
dc.contributor.authorChacko, Alisha
dc.contributor.authorEleftheriou, Georgios
dc.contributor.authorGlover, Mary
dc.contributor.authorJiménez-Gallo, David
dc.contributor.authorJones, Elizabeth A
dc.contributor.authorLomas, Debra
dc.contributor.authorFölster-Holst, Regina
dc.contributor.authorSyed, Samira
dc.contributor.authorTasani, Monika
dc.contributor.authorThomas, Anna
dc.contributor.authorTisdall, Martin
dc.contributor.authorTorrelo, Antonio
dc.contributor.authorAylett, Sarah
dc.contributor.authorKinsler, Veronica A
dc.date.accessioned2023-02-08T14:38:25Z
dc.date.available2023-02-08T14:38:25Z
dc.date.issued2019-12-12
dc.identifier.doi10.1016/j.jid.2019.10.019
dc.identifier.essn1523-1747
dc.identifier.pmcPMC7187890
dc.identifier.pmid31838126
dc.identifier.pubmedURLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187890/pdf
dc.identifier.unpaywallURLhttp://www.jidonline.org/article/S0022202X19334785/pdf
dc.identifier.urihttp://hdl.handle.net/10668/14830
dc.issue.number5
dc.journal.titleThe Journal of investigative dermatology
dc.journal.titleabbreviationJ Invest Dermatol
dc.language.isoen
dc.organizationHospital Universitario Puerta del Mar
dc.page.number1110-1113
dc.pubmedtypeLetter
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.rights.accessRightsopen access
dc.subject.meshCapillaries
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshCohort Studies
dc.subject.meshFemale
dc.subject.meshGTP-Binding Protein alpha Subunits
dc.subject.meshGenetic Association Studies
dc.subject.meshGenotype
dc.subject.meshHumans
dc.subject.meshInfant
dc.subject.meshInfant, Newborn
dc.subject.meshMale
dc.subject.meshMosaicism
dc.subject.meshMutation
dc.subject.meshPhenotype
dc.subject.meshProspective Studies
dc.subject.meshProtein Domains
dc.subject.meshSkin
dc.subject.meshSkin Pigmentation
dc.subject.meshSturge-Weber Syndrome
dc.subject.meshVascular Malformations
dc.titleGNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number140
dspace.entity.typePublication

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