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Article

Mosaic cat eye syndrome in a child with unilateral iris coloboma.

Ophthalmic genetics - 1 Feb 2021

Hernández-Medrano Cristina, Hidalgo-Bravo Alberto, Villanueva-Mendoza Cristina, Bautista-Tirado Teresa, Apam-Garduño David

Abstract excerpt

BACKGROUND: Cat eye syndrome (CES) is a rare chromosomal disorder with a known incidence of 1 per 50,000-150,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients. In addition, other ocular malformations and systemic defects can be present. The aim of this report is to present a patient with unilateral iris coloboma related to a...

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Identifiers

PMID: 33465332
DOI: 10.1080/13816810.2020.1839918

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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