Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes
β Scribed by Erica D. Poletto; Angela M. Trinh; Terry L. Levin; Anthony M. Loizides
- Publisher
- Springer-Verlag
- Year
- 2009
- Tongue
- English
- Weight
- 251 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0301-0449
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## Abstract Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically distinct diseases caused by mutations in __SMAD4__ and __BMPR1A__ (for JP) and __endoglin__ and __ALK1__ (for HHT). Recently, a combined syndrome of JPβHHT was described that is also caused by mutatio
We report the results of a comprehensive and systematic clinical study of 324 patients with hereditary hemorrhagic telangiectasia, se- lected from a total of 1,270 cases recruited by epidemiological survey. In 94% of the cases, familial occurrence suggested autosomal dominant inheritance; maximum pe