Chinese capillary malformation-arteriovenous malformation: clinical and genetic analysis of eight cases

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Source: Frontiers Medicine

Original: https://www.frontiersin.org/articles/10.3389/fmed.2026.1774495...

Published: 2026-03-27T00:00:00Z

The article analyzed the clinical and genetic characteristics of eight Chinese families with capillary malformation-arteriovenous malformation (CM-AVM). The researchers identified mutations in the EPHB4 and RASA1 genes in these patients. In total, five EPHB4 gene variants and two RASA1 mutations were identified. Five of these variants were new. Clinical manifestations of CM-AVMs included multifocal capillary malformations and arteriovenous malformations or fistulas. The study expands the known spectrum of mutations associated with CM-AVM.