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Article

Ocular manifestations of Emanuel syndrome.

American journal of medical genetics. Part A - 1 Sept 2018

Saffren Brooke D, Capasso Jenina E, Zanolli Mario, Levin Alex V

Abstract excerpt

Emanuel syndrome is caused by a supernumerary der(22)t(11;22) and typically manifests with intellectual disability and craniofacial dysmorphism. Ocular abnormalities have infrequently been described. We report a 36-year-old man with severe intellectual disability, aphasia, and facial dysmorphism, with high myopia and juvenile open angle glaucoma (JOAG). Microarray analysis results included...

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Identifiers

PMID: 30178914
DOI: 10.1002/ajmg.a.40361

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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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