Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes

• Príomhchruthaitheoirí: Eva Lindberg (Údar), Claes Moller (Údar), Juha Kere (Údar), Satu Wedenoja (Údar), Agneta Anderzén-Carlsson (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2020-04-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

Abstract Background Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chronic diarrheal disorder causes severe dehydration and electrolyte di...