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Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)

Isabella Peixoto de Barcelos, Sarah Woidill, Francesco Gavazzi, Nicholson Modesti, Anjana Sevagamoorthy, Adeline Vanderver, Laura Adang

2024Molecular Genetics and Metabolism11 citationsDOIOpen Access PDF

Topics & Concepts

SiblingMedicineCohortConcordancePediatricsGenotypeAge of onsetGlasgow Outcome ScaleDiseaseInternal medicineGeneticsSurgeryBiologyGlasgow Coma ScaleGenePsychologyDevelopmental psychologyinterferon and immune responsesProtein Tyrosine PhosphatasesOcular Diseases and Behçet’s Syndrome
Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS) | Litcius