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
[Clinical characteristics and genetic analysis of three children with Congenital chlorine diarrhea].
Yin H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Prenatal diagnosis of congenital chloride diarrhea by whole exome sequencing in four Chinese families and prenatal genotype-phenotype association study.
Shao YF et al.
World Journal of Pediatrics : Wjp, 2023
Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation.
Bian X et al.
Open Life Sciences, 2023
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Pauta M et al.
Journal of Clinical Medicine, 2021
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
Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis.
Sun M et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2021
Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis.
Sun M et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2020
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx
Update on SLC26A3 mutations in congenital chloride diarrhea.
Wedenoja S et al.
Human Mutation, 2011
SLC26A3 mutations in congenital chloride diarrhea.
Mäkelä S et al.
Human Mutation, 2002
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