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Article

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.

BMC medical genomics - 6 Dec 2021

Kitayama Kana, Ishiguro Tomoya, Komiyama Masaki, Morisaki Takayuki, Morisaki Hiroko, Minase Gaku, Hamanaka Kohei, Miyatake Satoko, Matsumoto Naomichi, Kato Masaru, Takahashi Toru, Yorifuji Tohru

Abstract excerpt

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited vascular disorder characterized by recurrent epistaxis, skin/mucocutaneous telangiectasia, and organ/visceral arteriovenous malformations (AVM). HHT is mostly caused by mutations either in the ENG or ACVRL1 genes, and there are regional differences in the breakdown of causative genes. The clinical presentation is also variable...

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Identifiers

PMID: 34872578
DOI: 10.1186/s12920-021-01139-y
PMCID: PMC8647423

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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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