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Article

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.

Human molecular genetics - 15 Jan 2011

Cross Sally H, McKie Lisa, West Katrine, Coghill Emma L, Favor Jack, Bhattacharya Shoumo, Brown Steve D M, Jackson Ian J

Abstract excerpt

Renal-coloboma syndrome, also known as papillorenal syndrome, is an autosomal dominant human disorder in which optic disc coloboma is associated with kidney abnormalities. Mutations in the paired domain transcription factor PAX2 have been found to be the underlying cause of this disease. Disease severity varies between patients, and in some cases, renal hypoplasia has been found in the absence of any retinal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 20943750
DOI: 10.1093/hmg/ddq457
PMCID: PMC3005898

Genes

PAX2

Provenance

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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The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.PMID 20943750Read ↗

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