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Article

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

Pediatric dermatology - 1 Jan 2018

Edwards Lisa R, Blechman Adam B, Zlotoff Barrett J

Abstract excerpt

We describe a family who presented with several scattered, vascular, cutaneous lesions and was found to have a novel mutation in RASA1, diagnostic of capillary malformation-arteriovenous malformation syndrome. Our patient was initially given a presumptive clinical diagnosis of hereditary hemorrhagic telangiectasia. Capillary malformation-arteriovenous malformation syndrome shares several features with hereditary...

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Share to Arteriovenous Malformations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to p120 GTPase Activating Protein

Share to Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 29120072
DOI: 10.1111/pde.13332

Genes

RASA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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