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Article

Genetic analysis of Italian patients with congenital tufting enteropathy.

World journal of pediatrics : WJP - 1 May 2016

d'Apolito Maria, Pisanelli Daniela, Faletra Flavio, Giardino Ida, Gigante Maddalena, Pettoello-Mantovani Massimo, Goulet Olivier, Gasparini Paolo, Campanozzi Angelo

Abstract excerpt

BACKGROUND: Congenital tufting enteropathy (CTE), an inherited autosomal recessive rare disease, is a severe diarrhea of infancy which is clinically characterized by absence of inflammation and presence of intestinal villous atrophy. Mutations in the EpCAM gene were identified to cause CTE. Recent cases of syndromic tufting enteropathy harboring the SPINT2 (19q13.2) mutation were described. METHODS: Four CTE...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26684320
DOI: 10.1007/s12519-015-0070-y

Genes

SPINT2
CLDN7

Variants

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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