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Article

SLC26A3 mutations in congenital chloride diarrhea.

Human mutation - 1 Dec 2002

Mäkelä Siru, Kere Juha, Holmberg Christer, Höglund Pia

Abstract excerpt

Congenital chloride diarrhea (CLD) is an autosomal recessive disorder of intestinal electrolyte absorption. It is characterized by persistent secretory diarrhea resulting in polyhydramnios and prematurity prenatally, and dehydration, hypoelectrolytemia, hyperbilirubinemia, abdominal distention, and failure to thrive immediately after birth. CLD is caused by mutations in the solute carrier family 26, member 3 gene...

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Identifiers

PMID: 12442266
DOI: 10.1002/humu.10139

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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