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A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)

✍ Scribed by Carol J Gallione; Gabriela M Repetto; Eric Legius; Anil K Rustgi; Susan L Schelley; Sabine Tejpar; Grant Mitchell; Éric Drouin; Cornelius JJ Westermann; Douglas A Marchuk

Book ID
117285793
Publisher
The Lancet
Year
2004
Tongue
English
Weight
125 KB
Volume
363
Category
Article
ISSN
0140-6736

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Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome
✍ Carol Gallione; Arthur S. Aylsworth; Jill Beis; Terri Berk; Barbara Bernhardt; R 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 133 KB 👁 2 views

## 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