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Article

A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.

The British journal of dermatology - 1 Feb 2018

Takeichi T, Katayama C, Tanaka T, Okuno Y, Murakami N, Kono M, Sugiura K, Aoyama Y, Akiyama M

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Interferon-Induced Helicase, IFIH1

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Source

Identifiers

PMID: 29270977
DOI: 10.1111/bjd.15869

Genes

IFIH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.PMID 29270977Read ↗

Aicardi-Goutières Syndrome Is Caused by IFIH1 MutationsSemantic proximity Read ↗

Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1Semantic proximity Read ↗

Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.Semantic proximity Read ↗

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 PatientsSemantic proximity Read ↗

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.Semantic proximity Read ↗

Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.Semantic proximity Read ↗

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.Semantic proximity Read ↗

Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21Semantic proximity Read ↗

Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1.Semantic proximity Read ↗

The genetics of Aicardi-Goutières syndrome.Semantic proximity Read ↗

SAMHD1 Mutations Are Also Responsible for Aicardi-Goutières in the Cree Population.Semantic proximity Read ↗

Nicolaides-Baraitser syndrome: defining a phenotype.Semantic proximity Read ↗

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