Condition: AICARDI-GOUTIERES SYNDROME 7


rs1559810905 in IFIH1 gene and AICARDI-GOUTIERES SYNDROME 7 PMID 30965144 2020 An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.

PMID 25620204 2015 A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

PMID 28319323 2017 Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

PMID 24686847 2014 Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

PMID 24995871 2014 Aicardi-Goutières syndrome is caused by IFIH1 mutations.