Hereditary hemorrhagic telangiectasia
Definition:
References:
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[1]. C J Gallione, et al. SMAD4 mutations found in unselected HHT patients. J Med Genet. 2006 Oct;43(10):793-7. [Content Brief]
[2]. Claire L Shovlin, et al. Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Rev. 2010 Nov;24(6):203-19. [Content Brief]
[3]. D W Johnson, et al. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet. 1996 Jun;13(2):189-95. [Content Brief]
[4]. K A McAllister, 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. [Content Brief]
[5]. Pascal Brouillard, et al. Genetic causes of vascular malformations. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R140-9. [Content Brief]
[6]. Qing K Wang, et al. Update on the molecular genetics of vascular anomalies. Lymphat Res Biol. 2005;3(4):226-33. [Content Brief]
[7]. S Dupuis-Girod, et al. Hereditary hemorrhagic telangiectasia: from molecular biology to patient care. J Thromb Haemost. 2010 Jul;8(7):1447-56. [Content Brief]
[8]. Whitney L Wooderchak-Donahue, et al. BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia. Am J Hum Genet. 2013 Sep 5;93(3):530-7. [Content Brief]
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