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Article

Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma.

JAMA ophthalmology - 1 Jan 2019

Bichsel Colette A, Goss Jeremy, Alomari Mohammed, Alexandrescu Sanda, Robb Richard, Smith Lois E, Hochman Marcelo, Greene Arin K, Bischoff Joyce

Abstract excerpt

Importance: Choroidal hemangiomas are defined by a thickened choroid owing to vessel overgrowth, which may increase the intraocular pressure and lead to glaucoma. Choroidal hemangioma and glaucoma often co-occur in patients with Sturge-Weber syndrome, a rare neurocutaneous disorder characterized by capillary malformations. Objective: To determine whether the mutation found in most capillary malformations, GNAQ...

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Topics

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Share to Biomarkers, Tumor
Share to Capillaries

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Choroid

Share to Fluorescent Antibody Technique, Indirect

Share to Glucose Transporter Type 1

Share to GTP-Binding Protein alpha Subunits, Gq-G11

Share to Hemangioma

Share to Vascular Malformations

Source

Open in PubMed Open full text

Identifiers

PMID: 30422215
DOI: 10.1001/jamaophthalmol.2018.5141
PMCID: PMC6382586

Genes

GNAQ

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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Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma.PMID 30422215Read ↗

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GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal HemangiomaSemantic proximity Read ↗

Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations.Semantic proximity Read ↗

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