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

• Main Authors: Éva Dávid (Author), Dóra Török (Author), Katalin Farkas (Author), Nikoletta Nagy (Author), Emese Horváth (Author), Zsuzsanna Kiss (Author), György Oroszlán (Author), Márta Balogh (Author), Márta Széll (Author)
• Format: Book
• Published: BMC, 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 dis...