- Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review
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Güvenoğlu M, Şimşek-Kiper PÖ, Koşukcu C, Taskiran EZ, Saltık-Temizel İN, Gucer S, Utine E, Boduroğlu K
- KMID: 2535161
- Pediatr Gastroenterol Hepatol Nutr.
- 2022 Nov;25(6):441-452.
- doi: 10.5223/pghn.2022.25.6.441
Congenital diarrheal disorders (CDDs) with genetic etiology are uncommon hereditary intestinal diseases characterized by chronic, life-threatening, intractable watery diarrhea that starts in infancy. CDDs can be mechanistically divided into osmotic... -
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