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

Topics Community

Article

Hereditary Hemorrhagic Telangiectasia: The Convergence of Genotype, Phenotype, and Imaging in Modern Diagnosis and Management of a Multisystem Disease.

Radiology - 1 Jul 2021

Hetts Steven W, Shieh Joseph T, Ohliger Michael A, Conrad Miles B

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that manifests as vascular malformations in the brain, lung, liver, gastrointestinal tract, nasal mucosa, and skin. Diagnosis and management of HHT is guided in large part by imaging studies, making it a condition with which the radiology community needs familiarity. Proper screening and care lead to improved morbidity and mortality in...

Topics

Diagnostic Imaging
Genotype
Humans
Phenotype
Telangiectasia, Hereditary Hemorrhagic

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 33973836
DOI: 10.1148/radiol.2021203487

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary Hemorrhagic Telangiectasia: The Convergence of Genotype, Phenotype, and Imaging in Modern Diagnosis and Management of a Multisystem Disease.PMID 33973836Read ↗

Molecular mechanisms and clinical manifestations of hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Hereditary Hemorrhagic Telangiectasia.Semantic proximity Read ↗

Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis.Semantic proximity Read ↗

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.Semantic proximity Read ↗

Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature.Semantic proximity Read ↗

Clinical and molecular characterization of patients with hereditary hemorrhagic telangiectasia: Experience from an HHT Center of Excellence.Semantic proximity Read ↗

Global prevalence of hereditary hemorrhagic telangiectasia-associated variants estimated by analysis of large-scale genomic databases.Semantic proximity Read ↗

Hemoptysis caused by hereditary hemorrhagic telangiectasia: A case report and literature review.Semantic proximity Read ↗

Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.Semantic proximity Read ↗

Intramuscular hemangioma capillary type with HRAS mutation: Expanding the molecular genetic spectrum with an emphasis on overlap with arteriovenous malformations and distinct from infantile hemangioma.Semantic proximity Read ↗

Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.Semantic proximity Read ↗

ACVRL1 variation-induced hereditary hemorrhagic telangiectasia presenting with pulmonary arterial hypertension: clinical and genetic analyses of three case studies.Semantic proximity Read ↗

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