A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia

A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia

Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis. The patient, a...

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Main Authors: Joel Johansson, Christofer Sahin, Rebecka Pestoff, Simone Ignatova, Pia Forsberg, Anders Edsjö, Mattias Ekstedt, Marie Stenmark Askmalm
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:Case Reports in Gastrointestinal Medicine
Online Access:http://dx.doi.org/10.1155/2015/140616
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http://dx.doi.org/10.1155/2015/140616

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