Clin Exp Otorhinolaryngol.  2019 Nov;12(4):333-334. 10.21053/ceo.2019.01585.

Genetic Mutation Analysis Can Supplement Clinically Confirmed Hereditary Hemorrhagic Telangiectasia Populations

• Kim ST

• KMID: 2462727
• DOI: http://doi.org/10.21053/ceo.2019.01585

Abstract

No abstract available.

MeSH Terms

Telangiectasia, Hereditary Hemorrhagic*

Reference

1. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000; Mar. 91(1):66–7.

2. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev. 2010; Nov. 24(6):203–19.

3. AAssar OS, Friedman CM, White RI Jr. The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Laryngoscope. 1991; Sep. 101(9):977–80.

4. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994; Dec. 8(4):345–51.

5. Abdalla SA, Letarte M. Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. J Med Genet. 2006; Feb. 43(2):97–110.

6. Koenighofer M, Parzefall T, Frohne A, Allen M, Unterberger U, Laccone F, et al. Spectrum of novel hereditary hemorrhagic telangiectasia variants in an austrian patient cohort. Clin Exp Otorhinolaryngol. 2019; Nov. 12(4):405–11.

7. Chen YJ, Yang QH, Liu D, Liu QQ, Eyries M, Wen L, et al. Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. Eur J Clin Invest. 2013; Oct. 43(10):1016–24.

8. Karlsson T, Cherif H. Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler’s Disease, Uppsala University Hospital. Ups J Med Sci. 2018; Sep. 123(3):153–7.

9. Komiyama M, Ishiguro T, Yamada O, Morisaki H, Morisaki T. Hereditary hemorrhagic telangiectasia in Japanese patients. J Hum Genet. 2014; Jan. 59(1):37–41.

10. Kim MJ, Kim ST, Lee HD, Lee KY, Seo J, Lee JB, et al. Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia. BMC Med Genet. 2011; Oct. 12:130.

11. Torring PM, Brusgaard K, Ousager LB, Andersen PE, Kjeldsen AD. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia. Clin Genet. 2014; Aug. 86(2):123–33.