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Article

[Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Sept 2017

Yi Yan, Liu Xiaofeng, Wu Boda, Liu Jun, Ge Shenglei, Shi Xiaoliu

Abstract excerpt

OBJECTIVE: To investigate the clinical features and feasibility genetic diagnosis in a hereditary hemorrhagic telangiectasia (HHT) family, and to explore the application of gene mutation testing in HHT diagnosis.  Methods: Medical histories and clinical features of a family were analyzed to diagnose HHT patients and suspected individuals according to the clinical diagnostic criteria. Sequence analysis of endoglin...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28989145
DOI: 10.11817/j.issn.1672-7347.2017.09.004

Genes

ENG
ACVRL1

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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