Associated Papers
Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review.
Fang Y et al.
Clinical Genetics, 2025
The Genetic Architecture of Congenital Diarrhea and Enteropathy.
Gaibee Z et al.
The New England Journal of Medicine, 2025
40174224 (PubMed )
Supplement: NIHMS2042924-supplement-supp_table_8.xlsx › Variant_Summary_table
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.
Güvenoğlu M et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2022
Liver Pathology, Including MOC31 Immunohistochemistry, in Congenital Tufting Enteropathy.
Chen S et al.
The American Journal of Surgical Pathology, 2021
New mutation in EPCAM for congenital tufting enteropathy: A case report.
Zhou YQ et al.
World Journal of Clinical Cases, 2020
Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome.
Cai C et al.
Gastroenterology Research and Practice, 2020
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Pathak SJ et al.
Human Mutation, 2019
Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy.
Tang W et al.
Journal of Clinical Gastroenterology, 2018
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J et al.
Human Genetics, 2014
Absence of cell-surface EpCAM in congenital tufting enteropathy.
Schnell U et al.
Human Molecular Genetics, 2013
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf.
Salomon J et al.
European Journal of Medical Genetics, 0
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