Tufting enteropathy with EpCAM mutation: case report

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Karla Lais Pêgas; Eduardo Cambruzzi; Regis Schander Ferrelli; Carolina Soares da Silva; Renata Rostirola Guedes; Marina Adami; Eduardo Montagner Dias; Melina Utz Melere; Marilia Rosso Ceza; Cintia Steinhaus; Matias Epifanio; Julie Salomon; Cristina Targa Ferreira;
(2014)
  • Publisher: Sociedade Brasileira de Citopatologia
  • Journal: issn: 1678-4774
  • Publisher copyright policies & self-archiving
  • Related identifiers: doi: 10.5935/1676-2444.20140021
  • Subject: RB1-214 | Pathology | diarreia intratável | molécula de adesão das células epiteliais | gene EPCAM | tufting enteropathy | intractable diarrhea | intestinal mucosa | enteropatia com tufos epiteliais | mucosa intestinal | epithelial cell adhesion molecule | EpCAM gene

Tufting enteropathy (TE), also known as intestinal epithelial dysplasia (IED), is a rare congenital enteropathy related to an earlyonset of severe intractable diarrhea due to specific abnormalities of the intestinal epithelium and mutations of the EpCAM gene. TE is char... View more