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Article

Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.

Journal of the American Society of Nephrology : JASN - 1 Sept 2005

Fletcher Jeffery, Hu Min, Berman Yemima, Collins Felicity, Grigg John, McIver Margot, Jüppner Harald, Alexander Stephen I

Abstract excerpt

The renal coloboma syndrome (OMIM 120330) is caused by mutations in the PAX2 gene. Typical findings in these patients include renal hypoplasia, renal insufficiency, vesicoureteric reflux, and optic disc coloboma. A family with a novel heterozygous 10-bp deletion in exon 2 of the PAX2 gene leading...

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Share to Coloboma
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to PAX2 Transcription Factor

Share to Polycystic Kidney, Autosomal Dominant

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Source

Identifiers

PMID: 16049068
DOI: 10.1681/ASN.2005030239

Genes

PAX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16049068-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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