Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X‐linked Alport syndrome

Gelijkaardige items

• X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
  door: Xiao Zhang, et al.
  Gepubliceerd in: (2018-12-01)
• X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
  door: Zhang, Xiao, et al.
  Gepubliceerd in: (2018)
• Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay
  door: Horinouchi, Tomoko, et al.
  Gepubliceerd in: (2020)
• Genotype-Phenotype Correlations for Pathogenic COL4A3–COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome
  door: Judy Savige, et al.
  Gepubliceerd in: (2022-05-01)
• Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant?
  door: Savige, Judy
  Gepubliceerd in: (2018)