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January 1, 2015Case Reports in Gastrointestinal MedicineOpen Access

A NovelSMAD4Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia

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Authors

JJJoel JohanssonLinköping UniversityCSChristofer SahinLinköping UniversityRPRebecka PestoffLinköping University

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Cite This Study

Johansson et al. (2015) studied this question.

synapsesocial.com/papers/6a9faf8e26b4e28929efd148https://doi.org/10.1155/2015/140616
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)2000 · 1,765 citations
  2. 2SMAD4 Immunohistochemistry Reflects Genetic Status in Juvenile Polyposis Syndrome2010 · 67 citations
  3. 3The Prevalence of Hereditary Hemorrhagic Telangiectasia in Juvenile Polyposis Syndrome2012 · 82 citations
  4. 4Juvenile polyposis syndrome2011 · 178 citations