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Article

[A Case of Congenital Tufting Enteropathy with EpCAM Gene Complex Heterozygous Mutation (c.491+1G>A; c.352_353ins CACC)].

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition - 1 May 2022

Yang Mai, Xie Yong-Mei, Zhang Hai-Yang

Abstract excerpt

The patient, a one-month-old male infant, was admitted for "recurrent diarrhea for 20 + days and vomiting for 4 days". On the 8th day after birth, the patient began to develop recurrent refractory diarrhea, accompanied by abdominal distension, vomiting, dehydration, acidosis, and malnutrition. There were many cases of malignant tumors of the digestive system in the patient's family. Genetic testing identified...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35642160
DOI: 10.12182/20220560109
PMCID: PMC10409424

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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