Condition: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL


rs606231203 in EPCAM gene and DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL PMID 18572020 2008 Identification of EpCAM as the gene for congenital tufting enteropathy.

PMID 20981223 2010 Tufting Enteropathy with EpCAM Mutations in Two Siblings.

PMID 23462293 2013 Absence of cell-surface EpCAM in congenital tufting enteropathy.

PMID 24142340 2014 Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.