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Article

[Aicardi-Goutieres syndrome: a family case due to alteration of the RNASEH2B gene].

Revista de neurologia - 1 Jun 2021

Viguera-Elías D, de la Iglesia-Nagore I, Toledo-Gotor C, Domínguez-Garrido E, Poch-Olivé M L

Abstract excerpt

INTRODUCTION: Aicardi-Goutieres syndrome is a progressive encephalopathy with onset in the first year of life that conditions psychomotor retardation, microcephaly and pyramidal dysfunction. It has a prevalence of 1-5 in 10,000 newly live births. Most cases have autosomal recessive transmission, due to alteration in seven genes involved in the metabolism of interferon, which causes an increase in its levels in...

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Identifiers

PMID: 34042169
DOI: 10.33588/rn.7211.2021071

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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