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

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

Abstract 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. Met...

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Main Authors: Rosario Sánchez-Martínez, Adriana Iriarte, José María Mora-Luján, José Luis Patier, Daniel López-Wolf, Ana Ojeda, Miguel Angel Torralba, María Coloma Juyol, Ricardo Gil, Sol Añón, Joel Salazar-Mendiguchía, Antoni Riera-Mestre, for the RiHHTa Investigators of the Rare Diseases Working Group from the Spanish Society of Internal Medicine
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary hemorrhagic telangiectasia
Genetic test
Phenotype
Genotype
Rare diseases
Online Access:http://link.springer.com/article/10.1186/s13023-020-01422-8

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