Developmental outcomes of Aicardi Goutières Syndrome

Aicardi Goutières Syndrome (AGS) is a monogenic interferonopathy caused by abnormalities in the intracellular nucleic acid sensing machinery (TRE4X1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or IFIH1). Most individuals affected by AGS exhibit some degree of neurologic impairment, from spastic pa...

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Detalhes bibliográficos
Publicado no:J Child Neurol
Main Authors: Adang, Laura, Gavazzi, Francesco, De Simone, Micaela, Fazzi, Elisa, Galli, Jessica, Koh, Jamie, Kramer-Golinkoff, Julia, De Giorgis, Valentina, Orcesi, Simona, Peer, Kyle, Ulrick, Nicole, Woidill, Sarah, Shults, Justine, Vanderver, Adeline
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7402202/
https://ncbi.nlm.nih.gov/pubmed/31559893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073819870944
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