Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

doi:10.1093/ndt/gfn681

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Article

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 May 2009

Marcocci Elena, Uliana Vera, Bruttini Mirella, Artuso Rosangela, Silengo Margherita Cirillo, Zerial Marlenka, Bergesio Franco, Amoroso Antonio, Savoldi Silvana, Pennesi Marco, Giachino Daniela, Rombolà Giuseppe, Fogazzi Giovanni Battista, Rosatelli Cristina, Martinhago Ciro Dresch, Carmellini Mario, Mancini Roberta, Di Costanzo Giuseppina, Longo Ilaria, Renieri Alessandra, Mari Francesca

Abstract excerpt

BACKGROUND: Alport syndrome is a clinically and genetically heterogeneous nephropathy characterized by glomerular basement membrane lesions often associated with hearing loss and ocular anomalies. While the X-linked and the autosomal recessive forms are well known, the autosomal dominant form is...

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PMID: 19129241
DOI: 10.1093/ndt/gfn681

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19129241-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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