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lüll Hereditary haemorrhagic telangiectasia: a clinical and scientific review Govani FS; Shovlin CLEur J Hum Genet 2009[Jul]; 17 (7): 860-71The autosomal-dominant trait hereditary haemorrhagic telangiectasia (HHT) affects 1 in 5-8000 people. Genes mutated in HHT (most commonly for endoglin or activin receptor-like kinase (ALK1)) encode proteins that modulate transforming growth factor (TGF)-beta superfamily signalling in vascular endothelial cells; mutations lead to the development of fragile telangiectatic vessels and arteriovenous malformations. In this article, we review the underlying molecular, cellular and circulatory pathobiology; explore HHT clinical and genetic diagnostic strategies; present detailed considerations regarding screening for asymptomatic visceral involvement; and provide overviews of management strategies.|*Telangiectasia, Hereditary Hemorrhagic/genetics/metabolism/physiopathology[MESH]|Activin Receptors, Type II/genetics[MESH]|Antigens, CD/genetics[MESH]|Endoglin[MESH]|Hemorrhage[MESH]|Humans[MESH]|Mutation[MESH]|Receptors, Cell Surface/genetics[MESH]|Signal Transduction[MESH]|Transforming Growth Factor beta/metabolism[MESH] |