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Article

Ocular features of CHARGE syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Oct 2008

McMain Karen, Blake Kim, Smith Isabel, Johnson Judy, Wood Ellen, Tremblay Francois, Robitaille Johane

Abstract excerpt

PURPOSE: To detail the presence and severity of ocular and cranial nerve abnormalities found in individuals with CHARGE syndrome in a distinct geographic area. METHODS: Nine individuals with CHARGE syndrome from Maritime Canada identified from a Canadian database were prospectively examined. Structural and sensorial defects associated with functional visual deficits were defined with ophthalmic and neurological...

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Source

Identifiers

PMID: 18455933
DOI: 10.1016/j.jaapos.2008.02.009

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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