Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A new locus for hereditary haemorrhagic telangiectasia (<i>HHT3</i>) maps to chromosome 5

1 Jul 2005

Abstract excerpt

Patients with hereditary haemorrhagic telangiectasia (HHT, or Osler-Weber-Rendu syndrome) have variable presentation patterns and a high risk of preventable complications. Diagnostic tests for mutations in endoglin (HHT type 1) and ALK-1 (HHT type 2) are available. Some HHT patients are now known to have HHT-juvenile polyposis overlap syndrome due to Smad4 mutations. Families were ascertained following the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Tracheal and airway disorders
Share to Vascular Anomalies and Treatments

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 15994879
DOI: 10.1136/jmg.2004.028712

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new locus for hereditary haemorrhagic telangiectasia (<i>HHT3</i>) maps to chromosome 5PMID 15994879Read ↗

A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1.Semantic proximity Read ↗

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of diseaseSemantic proximity Read ↗

Hereditary Haemorrhagic Telangiectasia (HHT): genetic and molecular aspects.Semantic proximity Read ↗

Hereditary haemorrhagic telangiectasia: a clinical and scientific review.Semantic proximity Read ↗

An update on preclinical models of hereditary haemorrhagic telangiectasia: Insights into disease mechanismsSemantic proximity Read ↗

Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4Semantic proximity Read ↗

Hereditary Haemorrhagic Telangiectasia, an Inherited Vascular Disorder in Need of Improved Evidence-Based Pharmaceutical Interventions.Semantic proximity Read ↗

Pulmonary hypertension associated with hereditary haemorrhagic telangiectasia: from genetics to clinical management.Semantic proximity Read ↗

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.Semantic proximity Read ↗

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12qSemantic proximity Read ↗

New genetic drivers in hemorrhagic hereditary telangiectasia.Semantic proximity Read ↗

Molecular defects in rare bleeding disorders: hereditary haemorrhagic telangiectasia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.