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Article

Mutations within the MGC4607 gene cause cerebral cavernous malformations.

American journal of human genetics - 1 Feb 2004

Denier C, Goutagny S, Labauge P, Krivosic V, Arnoult M, Cousin A, Benabid A L, Comoy J, Frerebeau P, Gilbert B, Houtteville J P, Jan M, Lapierre F, Loiseau H, Menei P, Mercier P, Moreau J J, Nivelon-Chevallier A, Parker F, Redondo A M, Scarabin J M, Tremoulet M, Zerah M, Maciazek J, Tournier-Lasserve E

Abstract excerpt

Cerebral cavernous malformations (CCM) are hamartomatous vascular malformations characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. They cause seizures and focal neurological deficits due to cerebral hemorrhages. CCM loci have already been assigned to chr...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hemangioma, Cavernous, Central Nervous System

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Source

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Identifiers

PMID: 14740320
DOI: 10.1086/381718
PMCID: PMC1181930

Genes

CCM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14740320-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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