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Article

BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

American journal of human genetics - 5 Sept 2013

Wooderchak-Donahue Whitney L, McDonald Jamie, O'Fallon Brendan, Upton Paul D, Li Wei, Roman Beth L, Young Sarah, Plant Parker, Fülöp Gyula T, Langa Carmen, Morrell Nicholas W, Botella Luisa M, Bernabeu Carmelo, Stevenson David A, Runo James R, Bayrak-Toydemir Pinar

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT), the most common inherited vascular disorder, is caused by mutations in genes involved in the transforming growth factor beta (TGF-β) signaling pathway (ENG, ACVRL1, and SMAD4). Yet, approximately 15% of individuals with clinical features of HHT do not have mutations in these genes, suggesting that there are undiscovered mutations in other genes for HHT and possibly...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23972370
DOI: 10.1016/j.ajhg.2013.07.004
PMCID: PMC3769931

Genes

ACVRL1
ENG
SMAD4
GDF2
RASA1

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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