JP–HHT phenotype in Danish patients with SMAD4 mutations
Abstract
Patients with germline mutations in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT): the JP-HHT syndrome. The complete phenotypic picture of this syndrome is only just emerging. We describe the clinical characteristics of 14 patients with SMAD4-mutations. The study was a retrospective, register-based study. SMAD4 mutations carriers were identified through the Danish...
Paper Details
Title
Published Date
Dec 21, 2015
Journal
Volume
90
Issue
1
Pages
55 - 62
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