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
Three patients with new mutations in the EPCAM variant gene for congenital tufting enteropathy and a mutation review in China: a case report.
Wang SN et al.
Translational Pediatrics, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_15
A novel compound-heterozygous EPCAM mutation in congenital tufting enteropathy.
Zhao R et al.
Archives of Medical Science : Ams, 2022
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.
Wagener R et al.
European Journal of Human Genetics : Ejhg, 2021
33840814 (PubMed )
Supplement: 41431_2021_878_MOESM2_ESM.xlsx › Table_S3
Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.
Bono M et al.
Esmo Open, 2021
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
A novel nonsense mutation in the EpCAM gene in a patient with congenital tufting enteropathy.
Thoeni C et al.
Journal of Pediatric Gastroenterology and Nutrition, 2014
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