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Article

Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.

European journal of clinical investigation - 1 Oct 2013

Chen Yan-Jun, Yang Qing-Hui, Liu Dong, Liu Qian-Qian, Eyries Mélanie, Wen Liang, Wu Wen-Hui, Jiang Xin, Yuan Ping, Zhang Rui, Soubrier Florent, Jing Zhi-Cheng

Abstract excerpt

BACKGROUND: Mutations in activin receptor-like kinase-1 (ACVRL-1) or endoglin (ENG) are mostly identified in patients with hereditary haemorrhagic telangiectasia (HHT) associated with pulmonary hypertension (PH), but have not yet been studied in Chinese patients. MATERIAL AND METHODS: In this study, we investigated the clinical and molecular genetic features of Chinese patients with HHT-associated PH and analysed...

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Source

Identifiers

PMID: 23919827
DOI: 10.1111/eci.12138

Genes

ENG
BMPR2

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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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