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Article

The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature.

Ophthalmic genetics - 1 Mar 2006

Miller Garfield L, Somani Sohel, Nowaczyk Malgorzata J M, Feigenbaum Annette, Davidson Ronald G, Costa Teresa, Levin Alex V

Abstract excerpt

PURPOSE: We report ophthalmic manifestations in four Jacobsen syndrome cases, review the literature, and suggest phenotype-genotype correlations. METHODS: Chart review of Ocular Genetics Program patients at The Hospital for Sick Children, Toronto, Canada. RESULTS: Four del11qter cases are presented. Hypertelorism/telecanthus, abnormally slanted palpebral fissures, abnormal retinal findings, nasolacrimal duct...

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Identifiers

PMID: 16543195
DOI: 10.1080/13816810500481832

Genes

ABCG4

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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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