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Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families
Tufting enteropathy (TE) is caused by recessive EPCAM mutations, and is characterized by intractable diarrhea of congenital onset and disorganization of enterocytes. TE generally requires parenteral nutrition (PN) during childhood or intestinal bowel transplantation. We report three unrelated famili...
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| Publicado no: | Children (Basel) |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8232273/ https://ncbi.nlm.nih.gov/pubmed/34198699 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/children8060503 |
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