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Article

A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation.

Clinical nephrology - 1 Dec 2009

Miyazawa T, Nakano M, Takemura Y, Miyazaki K, Yanagida H, Fujita S, Sugimoto K, Okada M, Takemura T

Abstract excerpt

A case of an adolescent male with renal-coloboma syndrome (RCS) showing developmental delay is described. Birth and perinatal histories were typical. Proteinuria was initially observed at the age of 7 years during an annual mass screening program for school children. His urine was checked periodi...

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Source

Identifiers

PMID: 19954729
DOI: 10.5414/cnp72497

Genes

PAX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19954729-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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