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本文引用的文献

1
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.遗传性出血性毛细血管扩张症诊断与管理的第二版国际指南。
Ann Intern Med. 2020 Dec 15;173(12):989-1001. doi: 10.7326/M20-1443. Epub 2020 Sep 8.
2
European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT).欧洲罕见血管疾病参考网络(VASCERN)关于遗传性出血性毛细血管扩张症(HHT)患者成人和儿童脑部筛查的立场声明。
Orphanet J Rare Dis. 2020 Jun 29;15(1):165. doi: 10.1186/s13023-020-01386-9.
3
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.遗传性出血性毛细血管扩张症的突变和表型特征。
Blood. 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560.
4
Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.遗传性出血性毛细血管扩张症:从血液学家的角度诊断和管理。
Haematologica. 2018 Sep;103(9):1433-1443. doi: 10.3324/haematol.2018.193003. Epub 2018 May 24.
5
Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.遗传性出血性毛细血管扩张症:新时代的遗传学与分子诊断
Front Genet. 2015 Jan 26;6:1. doi: 10.3389/fgene.2015.00001. eCollection 2015.
6
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.国际遗传性出血性毛细血管扩张症诊断和管理指南。
J Med Genet. 2011 Feb;48(2):73-87. doi: 10.1136/jmg.2009.069013. Epub 2009 Jun 23.
7
Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).遗传性出血性毛细血管扩张症(伦杜-奥斯勒-韦伯综合征)的诊断标准。
Am J Med Genet. 2000 Mar 6;91(1):66-7. doi: 10.1002/(sici)1096-8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p.

EHA Endorsement of the Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.

作者信息

Rössler Jochen, Baumgartner Iris, Kremer Hovinga Johanna A

机构信息

Division of Pediatric Hematology and Oncology, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland.

Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

出版信息

Hemasphere. 2021 Oct 6;5(11):e647. doi: 10.1097/HS9.0000000000000647. eCollection 2021 Nov.

DOI:10.1097/HS9.0000000000000647
PMID:34646980
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8500661/
Abstract
摘要