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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...

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Detalles Bibliográficos
Autores principales: Güvenoğlu, Merve, Şimşek-Kiper, Pelin Özlem, Koşukcu, Can, Taskiran, Ekim Z., Saltık-Temizel, İnci Nur, Gucer, Safak, Utine, Eda, Boduroğlu, Koray
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2022
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