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T. Horinouchi

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Open access Sep 2026

Heterozygous COL4A3/COL4A4 variants: diagnostic trends and clinical kidney outcomes

ABSTRACT Background Heterozygous pathogenic variants in COL4A3 or COL4A4 are relatively common and associated with a broad clinical spectrum. However, nomenclature and risk stratification remain unsettled. We aimed to investigate temporal diagnostic trends and clinical features of haematuria-positive individuals with h...

Yuriko Tanaka, T. Horinouchi, Shuhei Aoyama et al. · 0 citations

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