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Article

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

Human genetics - 1 Jul 2010

Richards-Yutz Jennifer, Grant Kathleen, Chao Elizabeth C, Walther Susan E, Ganguly Arupa

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant, vascular disease hallmarked by the development of arteriovenous malformations (AVMs). Germline mutations in two genes, endoglin (ENG) and activin receptor like kinase 1 (ACVRL1), have been implicated in this disease. This report describes molecular diagnosis in a consecutive series of 600 individuals with clinical features of HHT disease. Each...

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Share to Activin Receptors, Type II
Share to Antigens, CD
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Telangiectasia, Hereditary Hemorrhagic

Source

Identifiers

PMID: 20414677
DOI: 10.1007/s00439-010-0825-4

Genes

ACVRL1
ENG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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