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Article

PAX2 mutations in oligomeganephronia.

Kidney international - 1 Feb 2001

Salomon R, Tellier A L, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler M C, Broyer M

Abstract excerpt

BACKGROUND: Oligomeganephronia (OMN) is a rare congenital and usually sporadic anomaly. It is characterized by bilateral renal hypoplasia, with a reduced number of enlarged nephrons. The mechanisms involved in this deficient nephrogenesis are unknown. The paired box transcription factor PAX2 plays a fundamental role in renal development. Heterozygous Pax2 mutants in mice are characterized by renal hypoplasia and...

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Source

Identifiers

PMID: 11168927
DOI: 10.1046/j.1523-1755.2001.059002457.x

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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