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Article

Genetic features and kidney morphological changes in women with X-linked Alport syndrome.

Journal of medical genetics - 27 Nov 2023

Di Hongling, Wang Qing, Liang Dandan, Zhang Jiahui, Gao Erzhi, Zheng Chunxia, Yu Xiaomin, Liu Zhihong

Abstract excerpt

BACKGROUND: X-linked Alport syndrome (XLAS) caused by COL4A5 pathogenic variants usually has heterogeneous phenotypes in female patients. The genetic characteristics and glomerular basement membrane (GBM) morphological changes in women with XLAS need to been further investigated. METHODS: A total of 83 women and 187 men with causative COL4A5 variants were enrolled for comparative analysis. RESULTS: Women were...

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Identifiers

PMID: 37225412
DOI: 10.1136/jmg-2023-109221

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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