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
Late Diagnosis of Congenital Chloride Diarrhea Mimicking Hirschsprung's Disease.
Çelik AT et al.
Clinical Pediatrics, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.
Li Q et al.
Bmc Pediatrics, 2024
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
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.
Esposito MV et al.
Diagnostics (basel, Switzerland), 2021
Prenatal and Postnatal Manifestations of Congenital Chloride Diarrhea Due to a Heterozygote Variant of the SLC26A3 Gene: A Case Report.
Cendal I et al.
Frontiers in Pediatrics, 2021
A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.
Konishi KI et al.
Molecular Genetics & Genomic Medicine, 2020
SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea.
Doğan E et al.
Turk Pediatri Arsivi, 2020
Mucosal Abnormalities in Children With Congenital Chloride Diarrhea-An Underestimated Phenotypic Feature?
Kurteva E et al.
Frontiers in Pediatrics, 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
Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea.
Liaugaudiene O et al.
Journal of Pediatric Genetics, 2019
Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report.
Dávid É et al.
Bmc 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 presenting in newborn as a rare cause of meconium ileus.
Shamaly H et al.
Journal of Perinatology : Official Journal of the California Perinatal Association, 2013
Update on SLC26A3 mutations in congenital chloride diarrhea.
Wedenoja S et al.
Human Mutation, 2011
Significance of molecular testing for congenital chloride diarrhea.
Lechner S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2011
Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea.
Kere J et al.
The American Journal of Physiology, 1999
[Congenital chloride diarrhea mimicking meconium ileus in newborn].
Krzemień G et al.
Medycyna Wieku Rozwojowego, 0