Investigation identifies genotype-phenotype correlations in 19 Chinese children with COL4A4 variants, suggesting better classification for Alport syndrome.
Background: Variants in the COL4A4 gene have been identified as a significant cause of autosomal Alport syndrome. This study aimed to investigate the genetic features, clinical manifestations, and genotype-phenotype correlations in Chinese children with COL4A4 variants.
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Huang et al. (2025) studied this question.
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