ArticleFrontiers in genetics2025
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center.
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Capillary malformation-arteriovenous malformation syndrome (CM-AVM): a systematic review of cerebrovascular manifestations.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Pooled it
- Cerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.European journal of neurology · 2026Review
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Authors and funding
15 authors.
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Abstract
Introduction: Arteriovenous cerebral high-flow shunts include the vein of Galen aneurysmal malformation (VGAM) and vein of Galen dilatation, which are considered secondary to arteriovenous malformations or arteriovenous fistulas. These entities are often sporadic but are found in association with variants of the Methods: The genetic techniques employed include next-generation sequencing, multiplex ligation-dependent probe amplification, and whole-exome sequencing. Results: Of the 29 patients, 11 cases were found to have variants in genes associated with vascular functions, five cases received a genetic diagnosis, one case presented with a variant of uncertain significance in the Discussion: We provide extensive case descriptions and attempt to infer the genotype-phenotype correlations; variants in all of the known genes associated with arteriovenous cerebral shunts were reported in VGAM patients, while cutaneous angiomas were specific to
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