Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred

HHT type 2 (HHT 2) is a multi‐system vascular dysplasia caused by a mutation in the ALK‐1 gene, but the phenotype has not been well defined. We report on 51 members of an HHT 2 kindred with an ALK‐1 gene mutation shown to be associated with the disorder. This ALK‐1 mutation was detected in 38 kindre...

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