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

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 chr...

Source: BMC Medical Genetics - April 15, 2020 Category: Genetics & Stem Cells Authors: Eva Lindberg, Claes Moller, Juha Kere, Satu Wedenoja and Agneta Anderz én-Carlsson Tags: Case report Source Type: research