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Article

[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Nov 2014

Ji Taoyun, Wang Jingmin, Li Huijuan, Zhao Lirong, Sang Yan, Wu Ye

Abstract excerpt

OBJECTIVE: Aicardi-Goutières syndrome (AGS) is a rare early-onset genetic encephalopathy. The aim of this study was to explore the clinical, imaging and genetic features of a family with AGS, which may contribute to definite diagnosis, genetic counseling and prenatal diagnosis of this rare disease in China. We summarized the characteristics of AGS through reviewing related references. METHOD: Information of the...

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Source

Identifiers

PMID: 25582466

Genes

TREX1

Variants

Provenance

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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