Further delineation of SLC9A3-related congenital sodium diarrhea.

Ema BogdanicThomas MüllerPeter Heinz-ErianDorota Garczarczyk-AsimAndreas R JaneckeAline Rückel

Published in: Molecular genetics & genomic medicine (2022)

The clinical phenotype here appears to localize to the milder end of the known CSD spectrum, and the identified variants suggest that this is the twelfth patient reported to date with CSD due to mutations in SLC9A3.

Keyphrases

patient reported
irritable bowel syndrome
clostridium difficile
gene expression
dna methylation