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Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience.

Ștefan Nicolaie LujinschiBogdan Marian SorohanBogdan ObrișcăAlexandra VrabieGabriela Elena LupusoruCamelia AchimAndreea Gabriella AndronesiAndreea CovicGener Ismail
Published in: Genes (2024)
Patients with COL4A4 variants and those with missense mutations had significantly better renal survival, whereas those with COL4A3 variants and those with hearing loss had worse prognoses.
Keyphrases
  • copy number
  • hearing loss
  • intellectual disability
  • case report
  • free survival
  • dna methylation
  • autism spectrum disorder