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 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.

American journal of medical genetics. Part A - 1 Jun 2016

Macmurdo Colleen F, Wooderchak-Donahue Whitney, Bayrak-Toydemir Pinar, Le Jenny, Wallenstein Matthew B, Milla Carlos, Teng Joyce M C, Bernstein Jonathan A, Stevenson David A

Abstract excerpt

Germline mutations in RASA1 are associated with capillary malformation-arteriovenous malformation (CM-AVM) syndrome. CM-AVM syndrome is characterized by multi-focal capillary malformations and arteriovenous malformations. Lymphatic anomalies have been proposed as part of the phenotype. Intrafamilial variability has been reported, suggesting modifiers and somatic events. The objective of the study was to identify...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Arteriovenous Malformations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Capillaries

Share to Comparative Genomic Hybridization

Share to Germ-Line Mutation

Share to High-Throughput Nucleotide Sequencing

Share to p120 GTPase Activating Protein

Source

Identifiers

PMID: 26969842
DOI: 10.1002/ajmg.a.37613

Genes

RASA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.PMID 26969842Read ↗

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformationSemantic proximity Read ↗

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

Constitutional Mosaicism in <em>RASA1</em>-Related Capillary Malformation-Arteriovenous Malformation (CM-AVM)Semantic proximity Read ↗

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

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK SignalingSemantic proximity Read ↗

RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations.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 ↗

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

Novel EPHB4 mutation in capillary malformation-arteriovenous malformation syndrome 2 (CM-AVM2): the first genetic study in AsiansSemantic proximity Read ↗

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

Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene.Semantic proximity Read ↗

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