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Article

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

American journal of medical genetics. Part A - 15 Oct 2006

Bayrak-Toydemir Pinar, McDonald Jamie, Akarsu Nurten, Toydemir Reha M, Calderon Fernanda, Tuncali Timur, Tang Wei, Miller Franklin, Mao Rong

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is a genetically and clinically heterogeneous multisystem vascular dysplasia. Mutations of the endoglin and ACVRL1 genes are known to cause HHT. However, existence of HHT families in which linkage to these genes has been excluded has suggested that other gene(s) can cause HHT in some families. Recently, a family was reported to be linked to chromosome 5q, the HHT3...

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Identifiers

PMID: 16969873
DOI: 10.1002/ajmg.a.31450

Genes

ACVRL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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