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Article

[Clinical genetic analysis and diagnosis of a family with hereditary hemorrhagic telangiectasia].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery - 7 Dec 2021

Song X Y, Yang Y J, Yao Y, Zhang Y, Song X C

Abstract excerpt

Objective: To explore the diagnostic significance of the combination of clinical and genetic detection of hereditary hemorrhagic telangiectasia (HHT) by analyzing the clinical and genetic diagnosis of a family with HHT. Methods: Medical history data of the probands and their family members were collected, and the sequence analyses of coding regions of ENG, ACVRL1, SMAD4 and GDF2 genes were performed by...

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PMID: 34963219
DOI: 10.3760/cma.j.cn115330-20210323-00143

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