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Article

Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4

12 Feb 2025

Abstract excerpt

Background Hereditary haemorrhagic telangiectasia (HHT) is an inherited disorder of vascular malformations. It is caused by inherited loss-of-function mutations in one of three genes, ENG , ACVRL1 or SMAD4 . We recently showed that HHT-associated vascular malformations from liver, lung, brain and skin develop via a two-hit genetic mechanism resulting from biallelic loss-of-function mutations in either ENG or...

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Tracheal and airway disorders
Vascular Anomalies and Treatments
Vascular Malformations and Hemangiomas

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39939156
DOI: 10.1136/jmg-2024-110569

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Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4PMID 39939156Read ↗

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