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Article

Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.

American journal of medical genetics. Part A - 1 Jun 2012

Laimutis Kucinskas, Jackson Craig, Xu Xinjie, Warman Berta, Sarunas Rudaitis, Andriuskeviciute Irena, Birute Pundziene, Schimmenti Lisa A, Raca Gordana

Abstract excerpt

We present a patient with optic nerve hypoplasia, secondary strabismus, mild deafness, abnormal external ear helices, and renal hypoplasia. The clinical phenotype was consistent with renal-coloboma syndrome, but no point mutation in the PAX2 gene could be identified. High-resolution array comparative genomic hybridization (aCGH) analysis showed that this patient has a submicroscopic deletion on chromosome 10,...

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Source

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Identifiers

PMID: 22581475
DOI: 10.1002/ajmg.a.35342
PMCID: PMC4098919

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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