Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Sturge-Weber syndrome.

Handbook of clinical neurology - 1 Jan 2015

Comi Anne M

Abstract excerpt

Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturge-Weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturge-Weber syndrome presents at birth with a capillary malformation on the face (port-wine...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to GNAQ gene
Share to GTP-Binding Protein alpha Subunits, Gq-G11
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 26564078
DOI: 10.1016/B978-0-444-62702-5.00011-1

Genes

GNAQ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sturge-Weber syndrome.PMID 26564078Read ↗

GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current modelsSemantic proximity Read ↗

Capillary malformations.Semantic proximity Read ↗

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.Semantic proximity Read ↗

Sturge-Weber Syndrome in a Multinational Paediatric Cohort: A Systematic Analysis of Different TypesSemantic proximity Read ↗

Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndromeSemantic proximity Read ↗

The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K ActivationSemantic proximity Read ↗

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

Facial Port-Wine Stain Phenotypes Associated with Glaucoma Risk in Neonates.Semantic proximity Read ↗

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.Semantic proximity Read ↗

Genetic basis for vascular anomalies.Semantic proximity Read ↗

Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndromeSemantic proximity Read ↗

Similarities and differences between brain and skin <i>GNAQ</i> p.R183Q driven capillary malformationsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.