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Hereditary hemorrhagic telangiectasia with multiple hepatic and pulmonary nodular lesions

โœ Scribed by Yasuyuki Shimoyama; Satoru Kakizaki; Akiko Katano; Satoshi Takakusaki; Masafumi Mizuide; Takeshi Ichikawa; Ken Sato; Hitoshi Takagi; Masatomo Mori


Book ID
107648877
Publisher
Springer Japan
Year
2009
Tongue
English
Weight
541 KB
Volume
2
Category
Article
ISSN
1865-7257

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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