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Late diagnosis and atypical brain imaging of Aicardi–Goutières syndrome: are we failing to diagnose Aicardi–Goutières syndrome-2?

Aicardi–Goutières syndrome (AGS) is a rare disorder with in utero or postnatal onset of encephalopathy and progressive neurological deterioration. The seven genetic subtypes of AGS are associated with abnormal type I interferon-mediated innate immune response. Most patients with AGS present with pro...

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Dades bibliogràfiques
Publicat a:Dev Med Child Neurol
Autors principals: SVINGEN, LEAH, GOHEEN, MITCHELL, GODFREY, RENA, WAHL, COLLEEN, BAKER, EVA H, GAHL, WILLIAM A, MALICDAN, MAY CHRISTINE V, TORO, CAMILO
Format: Artigo
Idioma:Inglês
Publicat: 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5685901/
https://ncbi.nlm.nih.gov/pubmed/28762473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/dmcn.13509
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