Hereditary hemorrhagic telangiectasia:ENGandALK-1mutations in Dutch patients
โ Scribed by T. G. W. Letteboer; R. A. Zewald; E. J. Kamping; G. de Haas; J. J. Mager; R. J. Snijder; D. Lindhout; F. A. M. Hennekam; C. J. J. Westermann; J. K. Ploos van Amstel
- Publisher
- Springer
- Year
- 2004
- Tongue
- English
- Weight
- 309 KB
- Volume
- 116
- Category
- Article
- ISSN
- 0340-6717
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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
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