Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases submitted to molecular diagnosis. METHODS: We...

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Detalles Bibliográficos
Autores principales: Sánchez-Martínez, Rosario, Iriarte, Adriana, Mora-Luján, José María, Patier, José Luis, López-Wolf, Daniel, Ojeda, Ana, Torralba, Miguel Angel, Juyol, María Coloma, Gil, Ricardo, Añón, Sol, Salazar-Mendiguchía, Joel, Riera-Mestre, Antoni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275435/
https://www.ncbi.nlm.nih.gov/pubmed/32503579
http://dx.doi.org/10.1186/s13023-020-01422-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275435/
https://www.ncbi.nlm.nih.gov/pubmed/32503579
http://dx.doi.org/10.1186/s13023-020-01422-8

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