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Title of Journal: Pediatr Radiol

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Abbravation: Pediatric Radiology

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Springer-Verlag

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1432-1998

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Hereditary hemorrhagic telangiectasia and juvenile

Authors: Erica D Poletto Angela M Trinh Terry L Levin Anthony M Loizides
Publish Date: 2009/12/15
Volume: 40, Issue: 7, Pages: 1274-1277
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Abstract

Hereditary hemorrhagic telangiectasia HHT OslerWeberRendu syndrome is a syndrome characterized by multiorgan telangiectases and arteriovenous malformations A subset of patients with a mutation in the MADH4 gene on chromosome 18 exhibits an overlapping syndrome of HHT and juvenile polyposis JPS We present one such family Genetic testing is warranted when either HHT or JPS is diagnosed as early recognition of this syndrome overlap allows appropriate management of these patients

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