Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort

OBJECTIVES: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disorder characterized by pathogenic blood vessel development and maintenance. HHT type 1 (HHT1) and type 2 (HHT2) are caused by variants in endoglin (ENG) and activin receptor-like kinase-1 (ACVRL1), respec...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Clin Exp Otorhinolaryngol
Main Authors: Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Allen, Matthew, Unterberger, Ursula, Laccone, Franco, Schoefer, Christian, Frei, Klemens, Lucas, Trevor
Formato: Artigo
Idioma:Inglês
Publicado em: Korean Society of Otorhinolaryngology-Head and Neck Surgery 2019
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6787484/
https://ncbi.nlm.nih.gov/pubmed/31220907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21053/ceo.2019.00304
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados