Associated Papers
Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.
Huang Y et al.
Renal Failure, 2025
41087309 (PubMed )
Supplement: IRNF_A_2570072_SM8037.xlsx › Sheet1
Pathogenic variants in the Alport genes are prevalent in the Singapore multiethnic population with highest frequency in the Chinese.
Lim TST et al.
Scientific Reports, 2025
Early genetic sequencing in neonates with hyperkalemia: a retrospective cross-sectional study.
Liang W et al.
Translational Pediatrics, 2025
Case Report: Neonatal nephropathy with polycystic appearance in child harboring WT1 variant.
Nguyen TTT et al.
Frontiers in Pediatrics, 2025
Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.
Yuan X et al.
Journal of the American Society of Nephrology : Jasn, 2023
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
Storey H et al.
Journal of the American Society of Nephrology : Jasn, 2013
Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
Longo I et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006
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