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Article

Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1.

Cold Spring Harbor molecular case studies - 1 Aug 2020

Flores Daboub Josue A, Grimmer Johanes Fred, Frigerio Alice, Wooderchak-Donahue Whitney, Arnold Ryan, Szymanski Jeff, Longo Nicola, Bayrak-Toydemir Pinar

Abstract excerpt

Parkes Weber syndrome is associated with autosomal dominant inheritance, caused by germline heterozygous inactivating changes in the RASA1 gene, characterized by multiple micro arteriovenous fistulas and segmental overgrowth of soft tissue and skeletal components. The focal nature and variable expressivity associated with this disease has led to the hypothesis that somatic "second hit" inactivating changes in...

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Identifiers

PMID: 32843429
DOI: 10.1101/mcs.a005256
PMCID: PMC7476407

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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