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Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review
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 and secretory diarrhea. Congenital tufting enteropa...
Autores principales: | Güvenoğlu, Merve, Şimşek-Kiper, Pelin Özlem, Koşukcu, Can, Taskiran, Ekim Z., Saltık-Temizel, İnci Nur, Gucer, Safak, Utine, Eda, Boduroğlu, Koray |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9679307/ https://www.ncbi.nlm.nih.gov/pubmed/36451688 http://dx.doi.org/10.5223/pghn.2022.25.6.441 |
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