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Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review.

Clinical genetics - 1 Jul 2025

Fang Youhong, Luo Youyou, Xu Luojia, Yu Jindan, Chen Jie

Abstract excerpt

Congenital tufting enteropathy (CTE) is a rare autosomal recessive inherited disorder caused by mutations in the epithelial cell adhesion molecule (EpCAM) gene, characterized by severe diarrhea and growth failure. Between December 2017 and December 2023, eight patients diagnosed with CTE at our hospital were retrospectively analyzed for their clinical and genetic features, alongside a comprehensive literature...

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PMID: 39980129
DOI: 10.1111/cge.14702

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