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A NovelBMPR2Mutation Associated with Pulmonary Arterial Hypertension in an Octogenarian

✍ Scribed by Shilpa Johri; Gan H. Dunnington; Cindy L. Vnencak-Jones


Publisher
Springer
Year
2010
Tongue
English
Weight
215 KB
Volume
188
Category
Article
ISSN
0341-2040

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## Abstract Pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are distinct clinical entities caused by germline mutations in genes encoding members of the TGFΞ²/BMP superfamily: __BMPR2__ in PAH and __ACVRL1__, __ENG__, or __SMAD4__ in HHT. When PAH and HHT occasi

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