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

RASA1: variable phenotype with capillary and arteriovenous malformations.

Current opinion in genetics & development - 1 Jun 2005

Boon Laurence M, Mulliken John B, Vikkula Miikka

Abstract excerpt

Capillary malformation-arteriovenous malformation (CM-AVM) is a newly discovered hereditary disorder. Its defining features are atypical cutaneous multifocal capillary malformations often in association with high-flow lesions: cutaneous, subcutaneous, intramuscular, intraosseous and cerebral arteriovenous malformations and arteriovenous fistulas. Some patients have Parkes Weber syndrome - a large congenital...

Read the complete abstract on PubMed

Topics

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

Share to Arteriovenous Malformations
Share to Capillaries
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to ras GTPase-Activating Proteins

Source

Identifiers

PMID: 15917201
DOI: 10.1016/j.gde.2005.03.004

Genes

RASA1
RASA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RASA1: variable phenotype with capillary and arteriovenous malformations.PMID 15917201Read ↗

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.Semantic proximity Read ↗

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.Semantic proximity Read ↗

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.Semantic proximity Read ↗

RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis.Semantic proximity Read ↗

A novel <i>RASA1</i> mutation causing capillary malformation–arteriovenous malformation (CM–AVM) presenting during pregnancySemantic proximity Read ↗

Blood vascular abnormalities in Rasa1(R780Q) knockin mice: implications for the pathogenesis of capillary malformation-arteriovenous malformation.Semantic proximity Read ↗

Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features.Semantic proximity Read ↗

RhoA activation-mediated vascular permeability in capillary malformation-arteriovenous malformation syndrome: a hypothesis.Semantic proximity Read ↗

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.Semantic proximity Read ↗

[Capillary malformation-arteriovenous malformation syndrome].Semantic proximity Read ↗

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.Semantic proximity Read ↗

A novel mutation in RASA1 causes capillary malformation and limb enlargementSemantic proximity Read ↗

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