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Article

Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study.

Pediatric dermatology - 1 Jan 2000

Weitz Nicole A, Lauren Christine T, Behr Gerald G, Wu June K, Kandel Jessica J, Meyers Philip M, Sultan Sally, Anyane-Yeboa Kwame, Morel Kimberly D, Garzon Maria C

Abstract excerpt

Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autosomal dominant disorder caused by RASA1 mutations. The prevalence and phenotypic spectrum are unknown. Evaluation of patients with multiple CMs is challenging because associated AVMs can be life threatening. The objective of this study was to describe the clinical characteristics of children presenting with features of CM-AVM to an...

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Source

Identifiers

PMID: 25040287
DOI: 10.1111/pde.12384

Genes

RASA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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