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Identification of a novel ENG gene mutation (c.1550_1551dupTG, p.S518*) in a Chinese family with hereditary hemorrhagic telangiectasia.

Medicina clinica - 10 Dec 2021

Chen Fang, Yang Mengxue, Wen Zhong, Yu Chaosheng

Abstract excerpt

BACKGROUND: It is very important to diagnose Hereditary hemorrhagic telangiectasia (HHT) early through appropriate screening and preventive treatment of a patient and their affected family members. This study aimed to report on a case of a Chinese family with heterozygous ENG-related HHT. METHODS: Gene mutations were identified by whole-exome sequencing and physical examination were conducted to reveal the...

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PMID: 34728086
DOI: 10.1016/j.medcli.2021.07.021

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