Identification of EPCAM mutation: clinical use of microarray
Author:
Affiliation:
1. Division of Medical Genetics; Department of Pediatrics; Duke University Health System; Durham North Carolina
2. Department of Pathology; Duke University Health System; Durham North Carolina
Funder
Genzyme
Pfizer
Publisher
Wiley
Subject
General Medicine
Reference20 articles.
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2. A founder effect at the EPCAM locus in congenital tufting enteropathy in the Arabic gulf;Salomon;Eur. J. Med. Genet.,2011
3. Intractable diarrhea with tufting enteropathy: a favorable outcome is possible;Lemale;J. Pediatr. Gastroenterol. Nutr.,2011
4. Isolated small bowel transplantation for tufting enteropathy;Paramesh;J. Pediatr. Gastroenterol. Nutr.,2003
5. A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities;Bird;Clin. Dysmorphol.,2007
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1. A novel compound-heterozygous EPCAM mutation in congenital tufting enteropathy;Archives of Medical Science;2022-11-01
2. Severe congenital diarrhea secondary to tufting enteropathy. Case report;Case reports;2022-08-03
3. Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review;Pediatric Gastroenterology, Hepatology & Nutrition;2022
4. Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms;Journal of Clinical Medicine;2020-12-23
5. Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome;Gastroenterology Research and Practice;2020-09-23
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