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Article

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

American journal of medical genetics - 14 Aug 2000

McDonald J E, Miller F J, Hallam S E, Nelson L, Marchuk D A, Ward K J

Abstract excerpt

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 kindred members who were evaluated systematically for associated vascular abnormalities. Pulmonary arteriovenous...

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Source

Identifiers

PMID: 10946360
DOI: 10.1002/1096-8628(20000814)93:4<320::aid-ajmg12>3.0.co;2-r

Genes

ALK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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