Associated Papers
Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review.
Chen D et al.
Molecular Genetics & Genomic Medicine, 2025
39924725 (PubMed )
Supplement: MGG3-13-e70053-s002.xlsx › Sheet1
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.
Mohamed M et al.
Annals of Human Genetics, 2022
Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics.
Ars E et al.
Clinical Kidney Journal, 2017
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
Bullich G et al.
European Journal of Human Genetics : Ejhg, 2015
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