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[Genetic analysis of a family with hereditary hemorrhagic telangiectasia caused by endoglin gene mutation].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases - 12 Sept 2023

Ma J L, Zhou Z, Li Y, Zhang C, Duan F H, Wang G M

Abstract excerpt

Objective: To explore the genetic characteristics of a family with hereditary hemorrhagic telangiectasia (HHT) caused by endoglin (ENG) gene mutations. Methods: A total of 17 individuals from a 3-generation HHT family attending the First Affiliated Hospital of Dali University were selected as the research subjects. Clinical data and familial disease status of the HHT family proband were collected. Whole exome...

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PMID: 37670645
DOI: 10.3760/cma.j.cn112147-20230530-00272

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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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