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Article

Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 23 Nov 2022

Mastrangelo Antonio, Madeira Catarina, Castorina Pierangela, Giani Marisa, Montini Giovanni

Abstract excerpt

BACKGROUND: Single mutations in COL4A3/COL4A4 genes have been described in patients with autosomal dominant Alport syndrome and thin basement membrane nephropathy, without a shared definition of these patients within the medical community. We aimed to better categorize this clinical entity by examining clinical manifestations, family history, pathological features and genetics. METHODS: We retrospectively...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 35090027
DOI: 10.1093/ndt/gfab334

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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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