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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Vydáno v:Case Rep Gastrointest Med
Hlavní autoři: Johansson, Joel, Sahin, Christofer, Pestoff, Rebecka, Ignatova, Simone, Forsberg, Pia, Edsjö, Anders, Ekstedt, Mattias, Stenmark Askmalm, Marie
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2015
Témata:
Case Report
On-line přístup: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
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