Associated Papers
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.
Zhang R et al.
Molecular Genetics and Genomics : Mgg, 2025
Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.
Li Q et al.
Bmc Pediatrics, 2024
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
Diagnostic Challenge of Congenital Chloride Diarrhea and Ulcerative Colitis Overlap in an Adult Misdiagnosed with Bartter Syndrome: Case Report and Literature Review.
Sadagah LF et al.
The American Journal of Case Reports, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia.
Yan W et al.
Orphanet Journal of Rare Diseases, 2021
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.
Kim ES et al.
Annals of Laboratory Medicine, 2021
Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.
Oh J et al.
Clinical Genetics, 2021
Improvement of delayed growth after treatment in child with congenital chloride diarrhea.
An J et al.
Congenital Anomalies, 2020
A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.
Konishi KI et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.
Konishi KI et al.
The Journal of Pediatrics, 2019
Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation.
Fuwa K et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Congenital chloride diarrhea in dizygotic twins.
Seo KA et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2013
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.
Hong J et al.
European Journal of Pediatrics, 2013
Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.
Lee ES et al.
Annals of Laboratory Medicine, 2012