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Article

Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system

1 Jun 2006

Abstract excerpt

OBJECT: Important central nervous system (CNS) manifestations in patients with hereditary hemorrhagic telangiectasia (HHT) include arteriovenous malformations (AVMs) and dural arteriovenous fistulas (DAVFs). Hereditary hemorrhagic telangiectasia is caused by germline mutations of two genes: ENG (HHT Type 1) and ACVRL1 (HHT Type 2). The ENG gene variations have been associated with the formation of intracranial...

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Share to Cerebrovascular and genetic disorders
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Identifiers

PMID: 16776339
DOI: 10.3171/jns.2006.104.6.945

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Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous systemPMID 16776339Read ↗

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Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

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