First report: Rare RNF213 variant associated with familial moyamoya disease in an African American family
Sunmonu N, Ambati N, Thomas M, Ulep R, Worrall B. First report: Rare RNF213 variant associated with familial moyamoya disease in an African American family. Journal Of Stroke And Cerebrovascular Diseases 2021, 30: 106123. PMID: 34666234, DOI: 10.1016/j.jstrokecerebrovasdis.2021.106123.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesBlack or African AmericanGenetic Predisposition to DiseaseGenetic VariationHumansMaleMoyamoya DiseaseUbiquitin-Protein LigasesConceptsMoyamoya diseaseAfrican American familiesEthnically diverse participantsPotential genetic susceptibilityFamilial moyamoya diseaseFirst-degree relativesAmerican familiesLate presentationFatal courseNeurological eventsRNF213 geneMild diseasePhenotypic spectrumNeurovascular imagingThalamic strokeFatal childhood diseaseIschaemic infarctionYoung probandsGenetic susceptibilityHeritable genetic diseaseDiverse participantsChildhood diseasesDiseaseGenetic diseasesRNF213