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Article

A novel case of bilateral high myopia, cataract, and total retinal detachment associated with interstitial 11q deletion.

Ophthalmic genetics - 1 Jun 2010

Sachdeva Reecha, Sears Jonathan E, Rychwalski Paul J

Abstract excerpt

PURPOSE: Jacobsen syndrome, also known as 11q deletion syndrome, is a rare condition characterized by multiple anomalies, including developmental delay, cardiac abnormalities, blood dyscrasias, distal limb abnormalities, craniofacial anomalies, and variable ophthalmic manifestations. The syndrome's phenotype is due to a terminal deletion and is usually severely debilitating, frequently associated with fatality....

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Source

Identifiers

PMID: 20450311
DOI: 10.3109/13816811003628833

Provenance

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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