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Article

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

Orphanet journal of rare diseases - 5 Jun 2020

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

Abstract excerpt

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 used data from the RiHHTa (Computerized Registry of Hereditary Hemorrhagic Telangiectasia) registry to describe...

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Identifiers

PMID: 32503579
DOI: 10.1186/s13023-020-01422-8
PMCID: PMC7275435

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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