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Article

MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.

Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research - 1 May 2017

Buers Insa, Rice Gillian I, Crow Yanick J, Rutsch Frank

Abstract excerpt

In 1973, Singleton and Merten described a new syndrome in 2 female probands with aortic and cardiac valve calcifications, early loss of secondary dentition, and widened medullary cavities of the phalanges. In 1984, Aicardi and Goutières defined a phenotype resembling congenital viral infection with basal ganglia calcification and increased protein content in the cerebrospinal fluid. Between 2006 and 2012,...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Interferon-Induced Helicase, IFIH1

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Source

Open in PubMed Open full text

Identifiers

PMID: 28475458
DOI: 10.1089/jir.2017.0004
PMCID: PMC5439407

Genes

IFIH1
SMS
ADAR
SAMHD1
TREX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.PMID 28475458Read ↗

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Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.Semantic proximity Read ↗

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