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Article

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.

European journal of human genetics : EJHG - 1 Oct 2018

Wooderchak-Donahue Whitney L, Johnson Peter, McDonald Jamie, Blei Francine, Berenstein Alejandro, Sorscher Michelle, Mayer Jennifer, Scheuerle Angela E, Lewis Tracey, Grimmer J Fredrik, Richter Gresham T, Steeves Marcie A, Lin Angela E, Stevenson David A, Bayrak-Toydemir Pinar

Abstract excerpt

RASA1-related disorders are vascular malformation syndromes characterized by hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM), arteriovenous fistulas (AVF), or Parkes Weber syndrome. The number of cases reported is relatively small; and while the main clinical features are CMs and AVMs/AVFs, the broader phenotypic spectrum caused by variants in the RASA1 gene is still...

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Identifiers

PMID: 29891884
DOI: 10.1038/s41431-018-0196-1
PMCID: PMC6138627

Genes

RASA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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