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

Ștefan Nicolaie LujinschiBogdan Marian SorohanBogdan ObrișcăAlexandra Vrabie Gabriela 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