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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Child Neurol
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2019
Pynciau:
Article
Mynediad Ar-lein: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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