Associated Papers
Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review.
Fang Y et al.
Clinical Genetics, 2025
Paediatric Congenital Enteropathies: Clinical and Histological Review.
Arienzo F et al.
Diagnostics (basel, Switzerland), 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.
Baz DS et al.
Frontiers in Pediatrics, 2024
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations.
Alkhalifa S et al.
Case Reports in Pediatrics, 2023
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.
Güvenoğlu M et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2022
A novel compound-heterozygous EPCAM mutation in congenital tufting enteropathy.
Zhao R et al.
Archives of Medical Science : Ams, 2022
Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia.
Yan W et al.
Orphanet Journal of Rare Diseases, 2021
Liver Pathology, Including MOC31 Immunohistochemistry, in Congenital Tufting Enteropathy.
Chen S et al.
The American Journal of Surgical Pathology, 2021
Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms.
Das B et al.
Journal of Clinical Medicine, 2020
New mutation in EPCAM for congenital tufting enteropathy: A case report.
Zhou YQ et al.
World Journal of Clinical Cases, 2020
Outcome associated with EPCAM founder mutation c.499dup in Qatar.
Hassan K et al.
European Journal of Medical Genetics, 2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome.
Cai C et al.
Gastroenterology Research and Practice, 2020
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Pathak SJ et al.
Human Mutation, 2019
Advances in Evaluation of Chronic Diarrhea in Infants.
Thiagarajah JR et al.
Gastroenterology, 2018
Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy.
Tang W et al.
Journal of Clinical Gastroenterology, 2018
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J et al.
Human Genetics, 2014
Absence of cell-surface EpCAM in congenital tufting enteropathy.
Schnell U et al.
Human Molecular Genetics, 2013
mTrop1/Epcam knockout mice develop congenital tufting enteropathy through dysregulation of intestinal E-cadherin/β-catenin.
Guerra E et al.
Plos One, 2012
Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation.
Al-Mayouf SM et al.
Journal of Pediatric Gastroenterology and Nutrition, 2009
A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf.
Salomon J et al.
European Journal of Medical Genetics, 0
New mutations of EpCAM gene for tufting enteropathy in Saudi Arabia.
AlMahamed S et al.
Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0
Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.
Alfares AA
International Journal of Health Sciences, 0