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Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: A case report

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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. | Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: A case report

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Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: A case report
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