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Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report
BACKGROUND: Congenital chloride diarrhea (CCD, OMIM 214700) is a rare autosomal recessively inherited condition characterized by watery diarrhea, hypochloremia and metabolic alkalosis. Mutations of the solute carrier family 26, member 3 (SLC26A3, OMIM 126650) gene are responsible for the disease. Th...
Autores principales: | Dávid, Éva, Török, Dóra, Farkas, Katalin, Nagy, Nikoletta, Horváth, Emese, Kiss, Zsuzsanna, Oroszlán, György, Balogh, Márta, Széll, Márta |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330408/ https://www.ncbi.nlm.nih.gov/pubmed/30635044 http://dx.doi.org/10.1186/s12887-019-1390-1 |
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