ArticleFrontiers in medicine2026
Chinese capillary malformation-arteriovenous malformation: clinical and genetic analysis of eight cases.
Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Capillary malformation-arteriovenous malformation (CM-AVM) is an inherited autosomal dominant vascular disorder associated with RAS p21 protein activator ( Methods: The clinical data of eight families with CM-AVM who were admitted to the Department of Dermatology, the Union Affiliated Hospital of Fujian Medical University from January 2022 to September 2023 were collected and analyzed. Whole-Exome Sequencing was used to detect the pathogenic gene in the probands, and Sanger sequencing was used to verify the gene mutation sites in family members. Homology modeling software was used to predict the three-dimensional structure of the protein and analyze the characteristics of gene mutations. Results: Five Conclusions: The clinical characteristics of CM-AVM include multifocal capillary malformations (CMs), telangiectasia, and arteriovenous malformation (AVM) or arteriovenous fistulas (AVF). The novel mutations could expand the spectrum of CM-AVM associated with
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