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Novelde novo mutation ofMADH4/SMAD4 in a patient with juvenile polyposis

✍ Scribed by Burger, Bettina ;Uhlhaas, Siegfried ;Mangold, Elisabeth ;Propping, Peter ;Friedl, Waltraut ;Jenne, Dieter ;Dockter, Gerhard ;Back, Walter


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
64 KB
Volume
110
Category
Article
ISSN
0148-7299

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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

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## Abstract Juvenile polyposis syndrome is a hamartomatous intestinal polyposis associated with malignant changes in 20% of patients at an early age. Germline mutations mostly involve two genes, __SMAD4__ and __BMPR1__, with no strong evidence of phenotype‐genotype correlation, which could be predi

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Familial juvenile polyposis (FJP) is a hamartomatous polyposis syndrome characterized by the appearance of juvenile polyps in the gastrointestinal tract. Patients with this syndrome are at an increased risk for cancer of the colon, stomach, and pancreas. Recently, germline mutations in the SMAD4/DPC

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Juvenile polyposis is an uncommon condition characterized by the development of multiple (usually more than 5) juvenile polyps in the gastrointestinal tract, especially in the colon. This disease usually occurs during childhood, and is inherited in an autosomal dominant fashion. It has been suggeste