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Distribution of Cerebrovascular Phenotypes According to Variants of the ENG and ACVRL1 Genes in Subjects with Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder caused, in more than 80% of cases, by mutations of either the endoglin (ENG) or the activin A receptor-like type 1 (ACVRL1) gene. Several hundred variants have been identified in these HHT-causing genes, including deletion...

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Detalles Bibliográficos
Autores principales:	Gaetani, Eleonora, Peppucci, Elisabetta, Agostini, Fabiana, Di Martino, Luigi, Lucci Cordisco, Emanuela, Sturiale, Carmelo L., Puca, Alfredo, Porfidia, Angelo, Alexandre, Andrea, Pedicelli, Alessandro, Pola, Roberto
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9146077/ https://www.ncbi.nlm.nih.gov/pubmed/35628811 http://dx.doi.org/10.3390/jcm11102685

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