Genetic Mutation Analysis Can Supplement Clinically Confirmed Hereditary Hemorrhagic Telangiectasia Populations

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참고문헌 (11)

1. Shovlin CL, "Diagnostic criteria for hereditary hemorrhagic telangiectasia(Rendu-Osler-Weber syndrome)", Am J Med Genet, 91(1), pp.66~67 (2000)
2. Shovlin CL, "Hereditary haemorrhagic telangiectasia : pathophysiology, diagnosis and treatment", Blood Rev, 24(6), pp.203~219 (2010)
3. AAssar OS, "The natural history of epistaxis in hereditary hemorrhagic telangiectasia", Laryngoscope, 101(9), pp.977~980 (1991)
4. McAllister KA, "Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1", Nat Genet, 8(4), pp.345~351 (1994)
5. Abdalla SA, "Hereditary haemorrhagic telangiectasia : current views on genetics and mechanisms of disease", J Med Genet, 43(2), pp.97~110 (2006)
6. Martin Koenighofer, "Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort", Clinical and Experimental Otorhinolaryngology, 12(4), pp.405~411 (2019), 대한이비인후과학회[DOI]
7. Chen YJ, "Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension", Eur J Clin Invest, 43(10), pp.1016~1024 (2013)
8. Karlsson T, "Mutations in the ENG, ACVRL1, and SMAD4genes and clinical manifestations of hereditary haemorrhagic telangiectasia : experience from the Center for Osler’s Disease, Uppsala University Hospital", Ups J Med Sci, 123(3), pp.153~157 (2018)
9. Komiyama M, "Hereditary hemorrhagic telangiectasia in Japanese patients", J Hum Genet, 59(1), pp.37~41 (2014)
10. Kim MJ, "Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia", BMC Med Genet, 12, pp.130~ (2011)
11. Torring PM, "National mutation study among Danish patients with hereditary haemorrhagic telangiectasia", Clin Genet, 86(2), pp.123~133 (2014)

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