Article
Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection.
Developmental medicine and child neurology - 1 Jun 2008
Crow Yanick J, Livingston John H
Abstract excerpt
Aicardi-Goutières syndrome (AGS) is a rare, genetically determined encephalopathy whose importance from a clinical viewpoint is magnified because of the risk of misdiagnosis as the sequelae of congenital infection. Recent molecular advances have shown that AGS can be caused by mutations in any one of at least five genes (four of which have so far been identified), most commonly on a recessive basis but...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.