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Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report

22 Jan 2016

Abstract excerpt

BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare, progressive, fatal vascular disorder. Genetic predisposition plays vital roles in the development of PAH, with most mutations being identified in genes involved in the transforming growth factor beta (TGF-β) signaling pathways. Defects in the BMP9 gene have been documented in hereditary hemorrhagic telangiectasia (HHT), the most common inherited...

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PMID: 26801773
DOI: 10.1186/s12890-016-0183-7

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