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Article

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Mar 2006

Longo Ilaria, Scala Elisa, Mari Francesca, Caselli Rossella, Pescucci Chiara, Mencarelli Maria Antonietta, Speciale Caterina, Giani Marisa, Bresin Elena, Caringella Domenica Angela, Borochowitz Zvi-Uri, Siriwardena Komudi, Winship Ingrid, Renieri Alessandra, Meloni Ilaria

Abstract excerpt

BACKGROUND: Alport syndrome (ATS) is a progressive inherited nephropathy characterized by irregular thinning, thickening and splitting of the glomerular basement membrane (GBM) often associated with hearing loss and ocular symptoms. ATS has been shown to be caused by COL4A5 mutations in its X-lin...

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PMID: 16338941
DOI: 10.1093/ndt/gfi312

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16338941-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

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

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Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.PMID 16338941Read ↗

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