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Article

Renal-coloboma syndrome: report of a novel PAX2 gene mutation.

American journal of ophthalmology - 1 Dec 2001

Chung G W, Edwards A O, Schimmenti L A, Manligas G S, Zhang Y H, Ritter R

Abstract excerpt

PURPOSE: To report a novel sporadic PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital renal hypoplasia. DESIGN: Observational case report and experimental study. METHODS: Mutational analysis of the PAX2 gene in a family. RESULTS: A 9-year-old patient with a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11730657
DOI: 10.1016/s0002-9394(01)01231-4

Genes

PAX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11730657-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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