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ALK-1 mutations in liver transplanted patients with hereditary hemorrhagic telangiectasia

โœ Scribed by Loukas Argyriou; Robert Pfitzmann; Lars-Erik Wehner; Stefan Twelkemeyer; Peter Neuhaus; Karim Nayernia; Wolfgang Engel


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
81 KB
Volume
11
Category
Article
ISSN
1527-6465

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