Expanding the <i>COL4A4</i> variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification

<b>Conclusion:</b> This is the first study to apply the new classification of Alport kidney disease to Chinese pediatric patients with <i>COL4A4</i> variants, substantially expanding the spectrum of <i>COL4A4</i> variants and providing new insights into genotype-phenotype correlations in this population.

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Publication Details

Journal
Renal Failure
Published
2025-10-14
DOI
https://doi.org/10.1080/0886022x.2025.2570072
Primary Topic
Cell Adhesion Molecules Research
Type
article
Field-Weighted Citation Impact
0.00
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article

Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification

Qifan Zhu, Xinyi Jiang, Hongzhou Lin, Xiu‐Feng Huang et al.
Renal Failure
Cell Adhesion Molecules Research
article

Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification

Qifan Zhu, Xinyi Jiang, Hongzhou Lin, Xiu‐Feng Huang, Dexuan Wang, Yutong Huang, Huihui Chen
article en

Abstract

<b>Conclusion:</b> This is the first study to apply the new classification of Alport kidney disease to Chinese pediatric patients with <i>COL4A4</i> variants, substantially expanding the spectrum of <i>COL4A4</i> variants and providing new insights into genotype-phenotype correlations in this population.

Renal FailureVol. 47(1)
Wenzhou Medical University (CN), Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University (CN)
Openalex Percentile: Top 63%
Cell Adhesion Molecules Research
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