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Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified inExpand
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
TREX1 constitutes the major 3'-->5' DNA exonuclease activity measured in mammalian cells. Recently, biallelic mutations in TREX1 have been shown to cause Aicardi-Goutieres syndrome at the AGS1 locus.Expand
Aicardi‐Goutières syndrome: description of a late onset case
Aicardi‐Goutières syndrome (AGS) is a genetically determined encephalopathy usually inherited as an autosomal recessive trait. The syndrome can be caused by mutations in the AGS1 gene encoding theExpand
P270 Moyamoya syndrome and peripheral vascular disease due to mutation in newly described Aicardi Goutieres syndrome 5 gene SAMHD1
Intravenous Immunoglobulin and systemic cortico-steroids were administered. Anti-epileptic agents together with medications for abnormal movements and anti-psychotic medications produced symptomaticExpand