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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):...
Autores principales: | BRIX, Anna Trier Heiberg, TØRRING, Pernille Mathiesen, BYGUM, Anette |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Society for Publication of Acta Dermato-Venereologica
2022
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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 |
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