Long-Term Follow-Up of Tufting Enteropathy Caused by EPCAM Mutation p.Asp253Asn and Absent EPCAM Expression

Tufting enteropathy (TE) is caused by recessive epithelial cell adhesion molecule (EPCAM) mutations, features congenital intractable diarrhea, growth retardation, and a characteristic disorganization of surface enterocytes. TE generally requires parenteral nutrition (PN) throughout childhood and int...

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Detalles Bibliográficos
Autores principales: Ozler, Oğuz, Brunner-Véber, Andrea, Fatih, Parmis, Müller, Thomas, Janecke, Andreas R., Arikan, Cigdem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10191536/
https://www.ncbi.nlm.nih.gov/pubmed/37206930
http://dx.doi.org/10.1097/PG9.0000000000000029

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