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Article

[An Aicardi-Goutières syndrome associated with a quasi-Moyamoya by a biallelic mutation in SAMHD1].

Revue medicale de Bruxelles - 1 Jan 2000

Barrit S

Abstract excerpt

SAMHD1 is one of seven known genes responsible for Aicardi-Goutières syndrome. It has the particularity to associate to this rare pediatric encephalopathy with autoimmune manifestations, a cerebral vasculopathy type Moyamoya. This condition has only been recently reported, less than fifty times in the literature. Our clinical case is a 11 year old boy from an inbred union whose clinical diagnosis confirmed...

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Source

Identifiers

PMID: 29869477
DOI: 10.30637/2018.16-030

Genes

SAMHD1

Provenance

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Related research

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[An Aicardi-Goutières syndrome associated with a quasi-Moyamoya by a biallelic mutation in SAMHD1].PMID 29869477Read ↗

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Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasisSemantic proximity Read ↗

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SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.Semantic proximity Read ↗

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