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Article

Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy.

Journal of clinical gastroenterology - 1 Jan 2018

Tang Wenjuan, Huang Taosheng, Xu Zhongyao, Huang Ying

Abstract excerpt

BACKGROUND AND AIMS: Congenital tufting enteropathy (CTE) is a rare autosomal recessive form of intractable diarrhea of infancy. Patients develop chronic diarrhea within days after birth, leading to severe malabsorption and significant mortality. CTE is characterized by subtotal villous atrophy with crypt hyperplasia. Typical features include abnormal villi in the intestinal epithelium and disorganization of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27875355
DOI: 10.1097/MCG.0000000000000739

Genes

EPCAM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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