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Article

Ocular manifestations of 22q11.2 microduplication.

Ophthalmology - 1 Jan 2014

Cordovez Jose A, Capasso Jenina, Lingao Michelle D, Sadagopan Karthikeyan A, Spaeth George L, Wasserman Barry N, Levin Alex V

Abstract excerpt

PURPOSE: To report a new ocular manifestation of the dup22q11 syndrome and explore involved genes that may offer insight to mechanisms of pathogenesis. DESIGN: Case series. PARTICIPANTS: Two male patients with this syndrome diagnosed with dup22q11.2. METHODS: Medical records were reviewed. Duplication was detected in the oligo-single nucleotide polymorphism chromosomal microarray and duplicated genes within the...

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Source

Identifiers

PMID: 23972321
DOI: 10.1016/j.ophtha.2013.06.040

Genes

CLDN5
MAPK1
SNAP29

Provenance

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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