Deciphering the complexity: a case of kidney failure with co-inheritance of COL4A5 and APOE variants

This case highlights the complementary role of kidney biopsy alongside WES in AS with complex genetic mechanisms. It also illustrates the incomplete penetrance of APOE Kyoto, common among Chinese carriers.

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Publication Details

Journal
BMC Nephrology
Published
2026-01-29
DOI
https://doi.org/10.1186/s12882-026-04775-7
Primary Topic
Cell Adhesion Molecules Research
Type
article
Field-Weighted Citation Impact
0.00
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article

Deciphering the complexity: a case of kidney failure with co-inheritance of COL4A5 and APOE variants

Cong Yao, Xuantong Dai, Xiaoyan Zhang, Yiqin Shi et al.
BMC Nephrology
Cell Adhesion Molecules Research
article

Deciphering the complexity: a case of kidney failure with co-inheritance of COL4A5 and APOE variants

Cong Yao, Xuantong Dai, Xiaoyan Zhang, Yiqin Shi, Ziyi Zhao, Fujun Lin, Shi Jin
article en

Abstract

This case highlights the complementary role of kidney biopsy alongside WES in AS with complex genetic mechanisms. It also illustrates the incomplete penetrance of APOE Kyoto, common among Chinese carriers.

BMC NephrologyVol. 27(1)
Shanghai Medical College of Fudan University (CN), Shanghai Jiao Tong University (CN), XinHua Hospital (CN), Colorado Kidney Care (US)
Zero hunger
Openalex Percentile: Top 79%
Cell Adhesion Molecules Research
DOIOpen Access PDFOpenAlex
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