Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome

Pathogenic variants in RASA1 are typically associated with a clinical condition called “capillary malformation-arteriovenous malformation” (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal ca...

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Detalles Bibliográficos
Autores principales: Coccia, Emanuele, Valeri, Lara, Zuntini, Roberta, Caraffi, Stefano Giuseppe, Peluso, Francesca, Pagliai, Luca, Vezzani, Antonietta, Pietrangiolillo, Zaira, Leo, Francesco, Melli, Nives, Fiorini, Valentina, Greco, Andrea, Lepri, Francesca Romana, Pisaneschi, Elisa, Marozza, Annabella, Carli, Diana, Mussa, Alessandro, Radio, Francesca Clementina, Conti, Beatrice, Iascone, Maria, Gargano, Giancarlo, Novelli, Antonio, Tartaglia, Marco, Zuffardi, Orsetta, Bedeschi, Maria Francesca, Garavelli, Livia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048332/
https://www.ncbi.nlm.nih.gov/pubmed/36980822
http://dx.doi.org/10.3390/genes14030549

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