Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience

Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease inherited in an autosomal dominant manner. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of the patients undergoing molecular testing. Th...

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Detalles Bibliográficos
Autores principales: Aguilera, Cinthia, Padró-Miquel, Ariadna, Esteve-Garcia, Anna, Cerdà, Pau, Torres-Iglesias, Raquel, Llecha, Núria, Riera-Mestre, Antoni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048779/
https://www.ncbi.nlm.nih.gov/pubmed/36981042
http://dx.doi.org/10.3390/genes14030772

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