A Case Report and Literature Review on Osteo-Oto-Hepato-Enteric Syndrome in Premature Infants Caused by UNC45A Deficiency.

Congenital Chloride Diarrhea in Infancy: Unveiling a Rare Clinical Case.

Trio-WES and functional validation reveals a novel splice site variant of SLC26A3 in a case with congenital chloride diarrhea and a systematic review of SLC26A3 mutations in China.

Enrichment of rare CFTR variants in Finnish patients with congenital chloride diarrhea.

Prenatally suspected and clinically diagnosed congenital chloride diarrhea.

SLC26A3 (DRA, the Congenital Chloride Diarrhea Gene): A Novel Therapeutic Target for Diarrheal Diseases.

Metabolic Alkalosis, Hypokalemia with Diarrhea due to Congenital Chloride Diarrhea.

Finding of a Homozygous SLC26A3 Mutation in a German Newborn with Congenital Chloride Diarrhea Presenting with Polyhydramnios and Dilated Bowel Loops.

Genetic background of neonatal hypokalemia.

Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.

Sonographic findings of transient marked proximal bowel dilatation in a growth-restricted fetus at 35 weeks' gestation.

Bicarbonate secretion and acid/base sensing by the intestine.

Late Diagnosis of Congenital Chloride Diarrhea Mimicking Hirschsprung's Disease.

Clinical analysis of salt-wasting in infants due to genetic aetiology.

Approach to Congenital Diarrhea and Enteropathies (CODEs).

Prenatal diagnosis of congenital chloride diarrhea: A case report.

Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.

Prenatal diagnosis of congenital chloride diarrhea by whole exome sequencing in four Chinese families and prenatal genotype-phenotype association study.

Favorable Effects of Octreotide in Congenital Chloride Diarrhea Associated With CKD.

Congenital chloride diarrhea presenting as dilated fetal bowel loops.

Diagnostic Challenge of Congenital Chloride Diarrhea and Ulcerative Colitis Overlap in an Adult Misdiagnosed with Bartter Syndrome: Case Report and Literature Review.

Fecal microbiota in congenital chloride diarrhea and inflammatory bowel disease.

Acquired long QT syndrome due to antiemetics, COVID-19 and Blastocystis hominis induced exacerbation of congenital chloride losing diarrhoea.

Upregulation of antimicrobial peptide expression in slc26a3-/- mice with colonic dysbiosis and barrier defect.

Step-Up Approach for Sodium Butyrate Treatment in Children With Congenital Chloride Diarrhea.

Delayed Diagnosis in a Male With Congenital Chloride Losing Diarrhea.

Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report.

Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia.

Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea.

Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea.

Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis.

NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.

Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes.

Congenital Chloride Diarrhea and Childhood Inflammatory Bowel Disease: A Multicenter Case Series.

Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases.

Congenital chloride diarrhea clinical features and management: a systematic review.

Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation.

Development of Crohn's Disease in a Child With SLC26A3-related Congenital Chloride Diarrhea: Report of the First Case in East Asia and a Novel Missense Variant.

[The first cases of genetically confirmed congenital diarrhea with chloride loss in Slovakia].

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

Mucosal Abnormalities in Children With Congenital Chloride Diarrhea-An Underestimated Phenotypic Feature?

Improvement of delayed growth after treatment in child with congenital chloride diarrhea.

Suicide attempt using potassium tablets for congenital chloride diarrhea: A case report.

Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes.

Updates on bone health in children with gastrointestinal diseases.

SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea.

Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea.

Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy.

Improvement Of Congenital Chloride Diarrhea With Corticosteroids: An Incidental Finding.

Congenital chloride diarrhoea.

[Establishment of a congenital chloride diarrhea-associated SLC26A3 c.392C>G (p.P131R) polymorphism-expressing cell model and a preliminary analysis of its mechanism of action].

Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea.

Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.

The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis.

Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.

Exome Sequencing in Clinical Hepatology.

Congenital chloride losing diarrhea: A single center experience in a highly consanguineous population.

Functional characterization of SLC26A3 c.392C>G (p.P131R) mutation in intestinal barrier function using CRISPR/CAS9-created cell models.

Slc26 Family of Anion Transporters in the Gastrointestinal Tract: Expression, Function, Regulation, and Role in Disease.

Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea.

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report.

Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse.

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.

Tumor necrosis factor-α acts reciprocally with solute carrier family 26, member 3, (downregulated-in-adenoma) and reduces its expression, leading to intestinal inflammation.

Surgical consequences in infants with delayed diagnosis of congenital chloride diarrhea.

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.

Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.

Bowel Dilation Diagnosed Prenatally.

Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI).

Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.

Loss of the anion exchanger DRA (Slc26a3), or PAT1 (Slc26a6), alters sulfate transport by the distal ileum and overall sulfate homeostasis.

A novel missense mutation Q495K of SLC26A3 gene identified in a Chinese child with congenital chloride-losing diarrhoea.

Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces.

SLC26A3 gene mutations in Tunisian patients with congenital chloride diarrhea.

Honeycomb fetal abdomen: characteristic sign of congenital chloride diarrhea.

Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene.

Congenital Chloride Diarrhea: Accurate Prenatal Diagnosis Using Color Doppler Sonography to Show the Passage of Diarrhea.

Congenital chloride-losing diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W.

Captopril in congenital chloride diarrhoea: a case study.

Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation.

Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis.