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Article

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2019

Savige Judy, Ariani Francesca, Mari Francesca, Bruttini Mirella, Renieri Alessandra, Gross Oliver, Deltas Constantinos, Flinter Frances, Ding Jie, Gale Daniel P, Nagel Mato, Yau Michael, Shagam Lev, Torra Roser, Ars Elisabet, Hoefele Julia, Garosi Guido, Storey Helen

Abstract excerpt

Recent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we describe current best practice and likely future developments. In individuals with suspected Alport syndrome, all three COL4A5, COL4A3 and COL4A4 genes should be examined for pathogenic variants, probably by high throughput-targeted next generation sequencing (NGS) technologies, with a customised panel for...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29987460
DOI: 10.1007/s00467-018-3985-4

Genes

MYH9

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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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