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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Dades bibliogràfiques
Publicat a:BMC Neurol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7450577/
https://ncbi.nlm.nih.gov/pubmed/32847536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-020-01890-2
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