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...

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Publicado en:BMC Pediatr
Autores principales: Dávid, Éva, Török, Dóra, Farkas, Katalin, Nagy, Nikoletta, Horváth, Emese, Kiss, Zsuzsanna, Oroszlán, György, Balogh, Márta, Széll, Márta
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6330408/
https://ncbi.nlm.nih.gov/pubmed/30635044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1390-1
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