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Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev 24: 203-219, 2010."},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Marchuk DA, Guttmacher AE, Penner JA, Ganguly P. Report on the workshop on Hereditary Hemorrhagic Telangiectasia, July 10-11, 1997. Am J Med Genet 76: 269-273, 1998.","DOI":"10.1002\/(SICI)1096-8628(19980319)76:3<269::AID-AJMG12>3.0.CO;2-F"},{"key":"3","unstructured":"3. Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med 245: 31-39, 1999."},{"key":"4","unstructured":"4. McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, Bayrak-Toydemir P. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet 6: 1, 2015."},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Vorselaars VMM, Hosman AE, Westermann CJJ, et al. Pulmonary arterial hypertension and hereditary haemorrhagic telangiectasia. Int J Mol Sci 19: 3203, 2018.","DOI":"10.3390\/ijms19103203"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Droege F, Thangavelu K, Stuck BA, Stang A, Lang S, Geisthoff U. Life expectancy and comorbidities in patients with hereditary hemorrhagic telangiectasia. Vasc Med 23: 377-383, 2018.","DOI":"10.1177\/1358863X18767761"},{"key":"7","unstructured":"7. Donaldson JW, McKeever TM, Hall IP, Hubbard RB, Fogarty AW. Complications and mortality in hereditary hemorrhagic telangiectasia: a population-based study. Neurology 84: 1886-1893, 2015."},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Sabba C, Pasculli G, Suppressa P, et al. Life expectancy in patients with hereditary haemorrhagic telangiectasia. QJM 99: 327-334, 2006.","DOI":"10.1093\/qjmed\/hcl037"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. de Gussem EM, Edwards CP, Hosman AE, et al. Life expextancy of parents with hereditary haemorrhagic telangiectasia. Orphanet J Rare Dis 11: 46, 2016.","DOI":"10.1186\/s13023-016-0427-x"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Trembath RC, Thomson JR, Machado RD, et al. Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 345: 325-334, 2001.","DOI":"10.1056\/NEJM200108023450503"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Harrison RE, Flanagan JA, Sankelo M, et al. Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. J Med Genet 40: 865-871, 2003.","DOI":"10.1136\/jmg.40.12.865"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Pousada G, Baloira A, Fontan D, Nunez M, Valverde D. Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension. BMC Genet 17: 72, 2016.","DOI":"10.1186\/s12863-016-0384-3"},{"key":"13","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1159\/000458447","volume":"94","author":"V Vorselaars","year":"2017","unstructured":"13. Vorselaars V, Velthuis S, van Gent M, et al. Pulmonary hypertension in a large cohort with hereditary hemorrhagic telangiectasia. Respiration 94: 242-250, 2017.","journal-title":"Respiration","ISSN":"https:\/\/id.crossref.org\/issn\/0025-7931","issn-type":"print"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Harder EM, Fares WH. Hospitalizations with hereditary hemorrhagic telangiectasia and pulmonary hypertension in the United States from 2000 to 2014. Respir Med 147: 26-30, 2019.","DOI":"10.1016\/j.rmed.2018.12.013"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Li W, Xiong CM, Gu Q, et al. The clinical characteristics and long-term prognosis of pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia. Pulm Circ 8: 2045894018759918, 2018.","DOI":"10.1177\/2045894018759918"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Girerd B, Montani D, Coulet F, et al. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. Am J Respir Crit Care Med 181: 851-861, 2010.","DOI":"10.1164\/rccm.200908-1284OC"},{"key":"17","unstructured":"17. Revuz S, Decullier E, Ginon I, et al. Pulmonary hypertension subtypes associated with hereditary haemorrhagic telangiectasia: haemodynamic profiles and survival probability. PLoS One 12: e0184227, 2017."},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Nakamura T, Ogo T, Tahara N, et al. Thalidomide for hereditary hemorrhagic telangiectasia with pulmonary arterial hypertension. Circ J 82: 1205-1207, 2018.","DOI":"10.1253\/circj.CJ-17-0299"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Abdalla SA, Gallione CJ, Barst RJ, et al. Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia. Eur Respir J 23: 373-377, 2004.","DOI":"10.1183\/09031936.04.00085504"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Montani D, Price LC, Girerd B, et al. Fatal rupture of pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasis and severe PAH. Eur Respir Rev 18: 42-46, 2009.","DOI":"10.1183\/09059180.00011113"},{"key":"21","unstructured":"21. Greco A, Plumitallo S, Scelsi L, et al. Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2. Pulm Circ. Forthcoming."},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Chen YJ, Yang QH, Liu D, et al. Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension. Eur J Clin Invest 43: 1016-1024, 2013.","DOI":"10.1111\/eci.12138"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Miyake R, Fujino T, Abe K, et al. Pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia successfully treated with sildenafil. Int J Cardiol 214: 275-276, 2016.","DOI":"10.1016\/j.ijcard.2016.03.211"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Chang SA, Jang SY, Ki CS, Kang IS, Kim DK. Successful bosentan therapy for pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia. Heart Vessels 26: 231-234, 2011.","DOI":"10.1007\/s00380-010-0079-z"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Smoot LB, Obler D, McElhinney DB, et al. Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia. Arch Dis Child 94: 506-511, 2009.","DOI":"10.1136\/adc.2007.133082"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Brakensiek K, Frye-Boukhriss H, Malzer M, et al. Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. Clin Genet 74: 171-177, 2008.","DOI":"10.1111\/j.1399-0004.2008.01029.x"},{"key":"27","unstructured":"27. Graf S, Haimel M, Bleda M, et al. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Nat Commun 9: 1416, 2018."},{"key":"28","doi-asserted-by":"crossref","unstructured":"28. Alsheikh B, Aljohani O, Coufal NG. Paediatric pulmonary hypertension caused by an ACVRL1 mutation presenting as Ortner syndrome. Cardiol Young 28: 1475-1476, 2018.","DOI":"10.1017\/S1047951118001531"},{"key":"29","unstructured":"29. Sommer N, Droege F, Gamen KE, et al. Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension. Pulm Circ. 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