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Genotypes and phenotypes of capillary malformation–arteriovenous malformation: characterization and correlation analysis

4 Oct 2024

Abstract excerpt

BACKGROUND: Capillary malformation-arteriovenous malformation (CM-AVM) is a rare genetic disorder characterized by multiple small capillary malformations (CMs) and arteriovenous malformations (AVMs), which has been linked with pathogenic variants in RASA1 and EPHB4. However, more data are needed to explore the phenotypic characteristics and the association between genotypes and clinical phenotypes. OBJECTIVES:...

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PMID: 39367533
DOI: 10.1111/ijd.17504

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