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Article

Single nucleotide polymorphisms associated with sporadic brain arteriovenous malformations: where do we stand?

Brain : a journal of neurology - 1 Feb 2013

Sturiale Carmelo Lucio, Puca Alfredo, Sebastiani Paola, Gatto Ilaria, Albanese Alessio, Di Rocco Concezio, Maira Giulio, Pola Roberto

Abstract excerpt

Brain arteriovenous malformations are characterized by a tangle of abnormal vessels directly shunting blood from the arterial to venous circulation. They are known to occur either sporadically or in the context of well-defined genetic disorders. Haemorrhage represents the most severe clinical manifestation, whereas other common symptoms include headache, seizures and neurological deficits. Although sporadic forms...

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PMID: 22975391
DOI: 10.1093/brain/aws180

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ACVRL1

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