Tufting Enteropathy with EpCAM Mutations in Two Siblings

Tufting enteropathy is a rare autosomal recessive disorder presenting with early-onset severe intractable diarrhea. The epithelial cell adhesion molecule gene (EpCAM) has recently been identified as the gene responsible for tufting enteropathy. Based on histology, a diagnosis of tufting enteropathy...

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Autors principals: Ko, Jae Sung, Seo, Jeong Kee, Shim, Jeong Ok, Hwang, Sol Ha, Park, Heae Surng, Kang, Gyeong Hoon
Format: Artigo
Idioma:Inglês
Publicat: The Korean Society of Gastroenterology; the Korean Society of Gastrointestinal Endoscopy; the Korean Association for the Study of the Liver; the Korean Society of Neurogastroenterology and Motility; Korean Association for the Study of Intestinal Diseases; Korean College of Helicobacter and Upper Gastrointestinal Research; Korean Society of Pancreatobiliary Diseases 2010
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2956358/
https://ncbi.nlm.nih.gov/pubmed/20981223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5009/gnl.2010.4.3.407
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