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Article

Genotype-phenotype correlation in X-linked Alport syndrome.

Journal of the American Society of Nephrology : JASN - 1 May 2010

Bekheirnia Mir Reza, Reed Berenice, Gregory Martin C, McFann Kim, Shamshirsaz Alireza Abdollah, Masoumi Amirali, Schrier Robert W

Abstract excerpt

Mutations in the COL4A5 gene cause X-linked Alport syndrome (XLAS). Understanding the correlation between clinical manifestations and the underlying mutations adds prognostic value to genetic testing, which is increasingly available. Our aim was to determine the association between genotype and phenotype in 681 affected male participants with XLAS from 175 US families. Hearing loss and ocular changes were present...

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Identifiers

PMID: 20378821
DOI: 10.1681/ASN.2009070784
PMCID: PMC2865738

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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