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Article

Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.

Journal of neurosurgery - 1 Jun 2017

Yılmaz Baran, Toktaş Zafer Orkun, Akakın Akın, Işık Semra, Bilguvar Kaya, Kılıç Türker, Günel Murat

Abstract excerpt

OBJECTIVE Brain arteriovenous malformations (AVMs) can occur in patients with hereditary hemorrhagic telangiectasia (HHT). However, brain AVM without HHT has also been reported. Using whole exome sequencing, the authors performed comprehensive genomic characterization of a 6-person Turkish family with 3 cases of brain AVM without HHT. METHODS Three siblings with brain AVM, one of whom also had spinal AVM, were...

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Source

Identifiers

PMID: 27611203
DOI: 10.3171/2016.6.JNS16665

Genes

ACVRL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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