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Article

Functional characterization of variants found in Japanese patients with hereditary hemorrhagic telangiectasia.

Clinical genetics - 1 May 2024

Morita Shuhei, Nomura Shunsuke, Azuma Kenko, Chida-Nagai Ayako, Furutani Yoshiyuki, Inai Kei, Inoue Tatsuya, Niimi Yasunari, Iizuka Yuo, Tsutsumi Yoshiyuki, Ishizaki Reina, Yamagishi Hiroyuki, Kawamata Takakazu, Akagawa Hiroyuki

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant form of vascular dysplasia. Genetic diagnosis is made by identifying loss-of-function variants in genes, such as ENG and ACVRL1. However, the causal mechanisms of various variants of unknown significance remains unclear. In this study, we analyzed 12 Japanese patients from 11 families who were clinically diagnosed with HHT. Sequencing analysis...

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PMID: 38225712
DOI: 10.1111/cge.14483

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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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