Article
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.
Genes - 22 Feb 2023
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
Abstract excerpt
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 capillary and arteriovenous malformations are mainly localized in the central nervous system, spine and skin. Although...
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