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Article

Atypical Alport syndrome associated with a novel COL4A5 mutation.

Clinical nephrology - 1 Mar 2009

Höpker K, Liebau M C, Friederichsohn C, Waldherr R, Benzing T

Abstract excerpt

Alport syndrome is a progressive hereditary renal disease. Mutations in the genes encoding for three members of the type IV collagen protein family have been found to be the cause of the disease. Alport syndrome is often associated with sensorineural hearing loss and ocular abnormalities, and patients suffering from typical Alport syndrome usually develop end stage renal disease during adolescence or young...

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PMID: 19281745
DOI: 10.5414/cnp71321

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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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