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Article

Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation.

Blood advances - 12 Jul 2022

Joyce Katie E, Onabanjo Ebun, Brownlow Sheila, Nur Fadumo, Olupona Kike, Fakayode Kehinde, Sroya Manveer, Thomas Geraldine A, Ferguson Teena, Redhead Julian, Millar Carolyn M, Cooper Nichola, Layton D Mark, Boardman-Pretty Freya, Caulfield Mark J, Shovlin Claire L

Abstract excerpt

The abnormal vascular structures of hereditary hemorrhagic telangiectasia (HHT) often cause severe anemia due to recurrent hemorrhage, but HHT causal genes do not predict the severity of hematological complications. We tested for chance inheritance and clinical associations of rare deleterious variants in which loss-of-function causes bleeding or hemolytic disorders in the general population. In double-blinded...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35316832
DOI: 10.1182/bloodadvances.2022007136
PMCID: PMC9278305

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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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