Novel Mutation of Gene Observed in Congenital Chloride Diarrhea

Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene on chromosome 7q31. Affected neonates are vulnerable to dehydration, electrolyte imbalance in the form of hyponatremia, metabolic alkalosis, failure to...

Full description

Bibliographic Details
Main Authors: Ji Hye Cheon, Na Li Yu, Na Mi Lee
Format: Article
Language:English
Published: Korean Society of Neonatology 2023-08-01
Series:Neonatal Medicine
Subjects:
Online Access:http://neo-med.org/upload/pdf/nm-2023-30-3-75.pdf