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Article

Advances in Alport syndrome diagnosis using next-generation sequencing.

European journal of human genetics : EJHG - 1 Jan 2012

Artuso Rosangela, Fallerini Chiara, Dosa Laura, Scionti Francesca, Clementi Maurizio, Garosi Guido, Massella Laura, Epistolato Maria Carmela, Mancini Roberta, Mari Francesca, Longo Ilaria, Ariani Francesca, Renieri Alessandra, Bruttini Mirella

Abstract excerpt

Alport syndrome (ATS) is a hereditary nephropathy often associated with sensorineural hypoacusis and ocular abnormalities. Mutations in the COL4A5 gene cause X-linked ATS. Mutations in COL4A4 and COL4A3 genes have been reported in both autosomal recessive and autosomal dominant ATS. The conventio...

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PMID: 21897443
DOI: 10.1038/ejhg.2011.164
PMCID: PMC3234521

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21897443-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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