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Article

Copy number variations in endoglin locus: mapping of large deletions in Spanish families with hereditary hemorrhagic telangiectasia type 1.

BMC medical genetics - 25 Nov 2013

Fontalba Ana, Fernández-Luna Jose L, Zarrabeitia Roberto, Recio-Poveda Lucia, Albiñana Virginia, Ojeda-Fernández Maria L, Bernabéu Carmelo, Alcaraz Luis A, Botella Luisa M

Abstract excerpt

BACKGROUND: The hereditary hemorrhagic telangiectasia syndrome (HHT), also known as the Rendu-Osler-Weber syndrome is a multiorganic vascular disorder inherited as an autosomal dominant trait. Diagnostic clinical criteria include: epistaxis, telangiectases in mucocutaneous and gastrointestinal sites, arteriovenous malformations (AVMs) most commonly found in pulmonary, hepatic and cerebral circulations, and...

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Topics

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Share to Antigens, CD
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoglin

Share to Genetic Loci

Share to Multiplex Polymerase Chain Reaction

Share to Receptors, Cell Surface

Share to Telangiectasia, Hereditary Hemorrhagic

Source

Open in PubMed Open full text

Identifiers

PMID: 24267784
DOI: 10.1186/1471-2350-14-121
PMCID: PMC4222255

Genes

ENG
ACVRL1
CDK9

Provenance

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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