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Article

Hereditary hemorrhagic telangiectasia in Japanese patients.

Journal of human genetics - 1 Jan 2014

Komiyama Masaki, Ishiguro Tomoya, Yamada Osamu, Morisaki Hiroko, Morisaki Takayuki

Abstract excerpt

To describe clinical presentations of hereditary hemorrhagic telangiectasia (HHT) patients in Japan. There were 80 patients (40 men and 40 women, age 2-78, mean 39.4 years old), who were either genetically verified or genetically not identifiable but clinically definite HHT patients. Clinical presentations of these HHT patients were analyzed retrospectively. Radiological examinations, which included at least...

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Source

Identifiers

PMID: 24196379
DOI: 10.1038/jhg.2013.113

Genes

ACVRL1
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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