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Article

Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.

Journal of nephrology - 1 Jun 2023

Zhou Lanqi, Xi Bijun, Xu Yongli, Han Yanxinli, Yang Yuan, Yang Jing, Wang Yi, Qiu Liru, Zhang Yu, Zhou Jianhua

Abstract excerpt

BACKGROUND: Alport syndrome is caused by COL4A3, COL4A4, or COL4A5 gene mutations. The present study aims to compare the clinicopathological features, gene mutations, and outcome of Chinese children with different forms of Alport syndrome. METHODS: One hundred twenty-eight children from 126 families diagnosed with Alport syndrome through pathological and genetic examination between 2003 and 2021 were included in...

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PMID: 37097554
DOI: 10.1007/s40620-023-01570-7

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