Correlation between age of onset and genotype with systemic symptomatology in Aicardi Goutières Syndrome

Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy that results invariable neurologic disability and systemic complications1. Key variables (e.g. genotypeand age at onset) only partially correlate with neurologic function, which can range from isolated spastic paraparesis to profound global developmental delay.

Publication Details

Journal
eScholarship (California Digital Library)
Published
2024-08-29
Primary Topic
Magnetic confinement fusion research
Type
article
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article

Correlation between age of onset and genotype with systemic symptomatology in Aicardi Goutières Syndrome

eScholarship (California Digital Library)
Magnetic confinement fusion research
article

Correlation between age of onset and genotype with systemic symptomatology in Aicardi Goutières Syndrome

article en

Abstract

Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy that results invariable neurologic disability and systemic complications1. Key variables (e.g. genotypeand age at onset) only partially correlate with neurologic function, which can range from isolated spastic paraparesis to profound global developmental delay.

eScholarship (California Digital Library)
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Openalex Percentile: Top 80%
Magnetic confinement fusion research
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Correlation between age of onset and genotype with systemic symptomatology in Aicardi Goutières Syndrome · eScholarship (California Digital Library) (2024) | TGRS Research Map | TGRS