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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| Principais autores: | , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Wiley
2015-01-01
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| Serier: | Case Reports in Gastrointestinal Medicine |
| Online adgang: | http://dx.doi.org/10.1155/2015/140616 |
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