Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare disorder characterized by recurrent epistaxis, telangiectasias and systemic arteriovenous malformations (AVMs). HHT is associated with mutations in genes encoding for proteins involved in end...

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Detalles Bibliográficos
Autores principales: Villa, Davide, Cinnante, Claudia, Valcamonica, Gloria, Manenti, Giulia, Lanfranconi, Silvia, Colombi, Annalisa, Ghione, Isabella, Saetti, Maria Cristina, D’Amico, Mario, Bonato, Sara, Bresolin, Nereo, Comi, Giacomo Pietro, Ronchi, Dario
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7450577/
https://www.ncbi.nlm.nih.gov/pubmed/32847536
http://dx.doi.org/10.1186/s12883-020-01890-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7450577/
https://www.ncbi.nlm.nih.gov/pubmed/32847536
http://dx.doi.org/10.1186/s12883-020-01890-2

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