Article
The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection.
Early human development - 1 Dec 2008
Jepps H, Seal S, Hattingh L, Crow Y J
Abstract excerpt
Aicardi-Goutières syndrome (AGS) is a rare, genetically-determined encephalopathy whose importance from a neonatology perspective is magnified because of the risk of misdiagnosis as the sequelae of congenital infection. Molecular advances have shown that AGS can be caused by mutations in any one of at least five genes (four of which have been identified). A recent genotype-phenotype study has shown that a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.