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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Child Neurol
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2019
Aiheet:
Article
Linkit: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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