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Juvenile stroke in combined syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis

✍ Scribed by Mazzucco, Sara; Benini, Luigi; Gallione, Carol; D’Adamo, Pio; Girelli, Domenico

Book ID: 125351917
Publisher: Springer Milan
Year: 2014
Tongue: English
Weight: 691 KB
Volume: 35
Category: Article
ISSN: 1590-1874
DOI: 10.1007/s10072-014-1724-6

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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 JP–HHT was described that is also caused by mutatio