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Article

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.

Blood - 22 Oct 2020

Shovlin Claire L, Simeoni Ilenia, Downes Kate, Frazer Zoe C, Megy Karyn, Bernabeu-Herrero Maria E, Shurr Abigail, Brimley Jennifer, Patel Dilipkumar, Kell Loren, Stephens Jonathan, Turbin Isobel G, Aldred Micheala A, Penkett Christopher J, Ouwehand Willem H, Jovine Luca, Turro Ernest

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Care delivery for HHT patients is impeded by the need for laborious, repeated phenotyping and gaps in knowledge regarding the relationships between causal DNA variants in ENG, ACVRL1, SMAD4 and GDF2, and clinical manifestations. To address this, we analyzed DNA samples from 183 previously uncharacterized, unrelated HHT and...

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Identifiers

PMID: 32573726
DOI: 10.1182/blood.2019004560
PMCID: PMC7717479

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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