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Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review

Capillary malformation-arteriovenous malformation syndrome is a rare genodermatosis with cutaneous capillary malformations and a risk of associated fast-flow malformations. We describe here a four-generation family with a novel heterozygous pathogenic variant in the EPHB4 gene (NM_004444.5 (EPHB4):...

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Detalles Bibliográficos
Autores principales: BRIX, Anna Trier Heiberg, TØRRING, Pernille Mathiesen, BYGUM, Anette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Society for Publication of Acta Dermato-Venereologica 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9558756/
https://www.ncbi.nlm.nih.gov/pubmed/35088870
http://dx.doi.org/10.2340/actadv.v102.1126