Article
Aicardi-Goutières syndrome: description of a late onset case.
Developmental medicine and child neurology - 1 Aug 2008
D'Arrigo Stefano, Riva Daria, Bulgheroni Sara, Chiapparini Luisa, Lebon Pierre, Rice Gillian, Crow Yanick J, Pantaleoni Chiara
Abstract excerpt
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 the exonuclease TREX1, or in any of the AGS2, AGS3, or AGS4 genes that encode the three subunits of the human ribonuclease H2 (RNaseH2) complex. Typically, AGS has an early onset, usually manifesting by the age of 4 months....
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