Nalaganje...
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...
Shranjeno v:
| izdano v: | Case Rep Gastrointest Med |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Hindawi Publishing Corporation
2015
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4331480/ https://ncbi.nlm.nih.gov/pubmed/25705527 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/140616 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|