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Article

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").

American journal of human genetics - 1 Apr 2002

Brouillard Pascal, Boon Laurence M, Mulliken John B, Enjolras Odile, Ghassibé Michella, Warman Matthew L, Tan O T, Olsen Bjorn R, Vikkula Miikka

Abstract excerpt

Glomuvenous malformations (GVMs) are cutaneous venous lesions characterized by the presence of smooth-muscle--like glomus cells in the media surrounding distended vascular lumens. We have shown that heritable GVMs link to a 4--6-cM region in chromosome 1p21-22. We also identified linkage disequilibrium that allowed a narrowing of this VMGLOM locus to 1.48 Mb. Herein, we report the identification of the mutated...

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Identifiers

PMID: 11845407
DOI: 10.1086/339492
PMCID: PMC379115

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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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Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").PMID 11845407Read ↗

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