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Further delineation of SLC9A3 ‐related congenital sodium diarrhea

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Congenital sodium diarrhea (CSD) is a rare enteropathy displaying both broad variability in clinical severity and genetic locus and allelic heterogeneity. Eleven CSD patients were reported so far with SLC9A3… Click to show full abstract

Congenital sodium diarrhea (CSD) is a rare enteropathy displaying both broad variability in clinical severity and genetic locus and allelic heterogeneity. Eleven CSD patients were reported so far with SLC9A3 variants that impair the function of the encoded intestinal sodium‐proton exchanger 3 (NHE3).

Keywords: sodium diarrhea; sodium; slc9a3 related; delineation slc9a3; congenital sodium

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022

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