X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

doi:10.1097/01.asn.0000090034.71205.74

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Article

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

Journal of the American Society of Nephrology : JASN - 1 Oct 2003

Jais Jean Philippe, Knebelmann Bertrand, Giatras Iannis, De Marchi Mario, Rizzoni Gianfranco, Renieri Alessandra, Weber Manfred, Gross Oliver, Netzer Kai-Olaf, Flinter Frances, Pirson Yves, Dahan Karin, Wieslander Jörgen, Persson Ulf, Tryggvason Karl, Martin Paula, Hertz Jens Michael, Schröder Cornelis, Sanak Marek, Carvalho Maria Fernanda, Saus Juan, Antignac Corinne, Smeets Hubert, Gubler Marie Claire

Abstract excerpt

Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease characterized by much less severe disea...

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PMID: 14514738
DOI: 10.1097/01.asn.0000090034.71205.74

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14514738-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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