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Article

Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype.

Clinical nephrology - 1 Jan 2007

Taranta A, Palma A, De Luca V, Romanzo A, Massella L, Emma F, Dello Strologo L

Abstract excerpt

BACKGROUND: Renal-coloboma syndrome (RCS) is an autosomal dominant disorder characterized by renal abnormalities and optic nerve defects, caused by heterozygous mutations of the PAX2 gene. This gene encodes for the PAX2 developmental nuclear transcription factor, which is primarily expressed during embryogenesis in kidneys, eyes, ears and in the central nervous system. The aim of the present study was to...

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Source

Identifiers

PMID: 17269592
DOI: 10.5414/cnp67001

Genes

PAX2

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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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Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype.PMID 17269592Read ↗

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