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Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia

5 Nov 2015

Abstract excerpt

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder caused by mutations in ENG, ACVRL1 and SMAD4, which function in regulating the transforming growth factor beta and bone morphogenetic protein signaling pathways. Symptoms of HHT can be present in individuals who test negative for mutations in these three genes indicating other genes may be involved. In this study, we tested for...

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Share to Coagulation, Bradykinin, Polyphosphates, and Angioedema
Share to Vascular Anomalies and Treatments
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 27081547
DOI: 10.1038/hgv.2015.40

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