A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family-Reference-Cited by-同舟云学术

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A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family

Published:2023-08-21 Issue:1 Volume:281 Page:237-243
ISSN:0937-4477
Container-title:European Archives of Oto-Rhino-Laryngology
language:en
Short-container-title:Eur Arch Otorhinolaryngol

Author:

Li Peng,Gao Chunhai,Wei Yuda,Zhao Xiangyu,Sun Dezhong,Lin Liqiang,Yang Yangyang,Shao Qiang,Lv Huaiqing^ORCID

Funder

Natural Science Foundation of Shandong Province

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Otorhinolaryngology

Link

https://link.springer.com/content/pdf/10.1007/s00405-023-08186-4.pdf

Reference16 articles.

1. Kjeldsen AD, Vase P, Green A (1999) Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med 245:31–39

2. Jelsig AM, Torring PM, Kjeldsen AD et al (2016) JP-HHT phenotype in Danish patients with SMAD4 mutations. Clin Genet 90:55–62

3. Kritharis A, Al-Samkari H, Kuter DJ (2018) Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective. Haematologica 103:1433–1443

4. McDonald J, Wooderchak-Donahue W, VanSant WC, Whitehead K, Stevenson DA, Bayrak-Toydemir P (2015) Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet 6:1

5. Xu Y, Zhang YB, Liang LJ et al (2021) NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China. BMC Pulm Med 21:197

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