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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Glavni autori: Anna Trier Heiberg Brix (Autor), Pernille Mathiesen Tørring (Autor), Anette Bygum (Autor)
Format: Knjiga
Izdano: Medical Journals Sweden, 2022-03-01T00:00:00Z.
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