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ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension

✍ Scribed by M Eyries; F Coulet; B Girerd; D Montani; M Humbert; P Lacombe; T Chinet; L Gouya; J Roume; MM Axford; CE Pearson; F Soubrier

Book ID: 115091963
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 926 KB
Volume: 82
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2011.01727.x

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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 TGFβ/BMP superfamily: __BMPR2__ in PAH and __ACVRL1__, __ENG__, or __SMAD4__ in HHT. When PAH and HHT occasi