A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate

A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate

Abstract Background Congenital chloride diarrhea (CCD) is characterized by persistent chloride (Cl)‐rich diarrhea evident from birth. CCD is a rare autosomal recessive disorder caused by defects in the solute carrier family 26 member 3 (SLC26A3) gene, which encodes an intestinal Cl−/HCO3−, Na+‐indep...

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Bibliographic Details
Main Authors: Ken‐ichiro Konishi, Tatsuki Mizuochi, Hitoshi Honma, Yuri Etani, Kazue Morikawa, Kazuko Wada, Ken Yamamoto
Format: Article
Language:English
Published: Wiley 2020-11-01
Series:Molecular Genetics & Genomic Medicine
Online Access:https://doi.org/10.1002/mgg3.1505

Internet

https://doi.org/10.1002/mgg3.1505

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