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Article

Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia.

Stem cell reports - 11 Jun 2024

Eintracht Jonathan, Owen Nicholas, Harding Philippa, Moosajee Mariya

Abstract excerpt

Genetic perturbations influencing early eye development can result in microphthalmia, anophthalmia, and coloboma (MAC). Over 100 genes are associated with MAC, but little is known about common disease mechanisms. In this study, we generated induced pluripotent stem cell (iPSC)-derived optic vesicles (OVs) from two unrelated microphthalmia patients and healthy controls. At day 20, 35, and 50, microphthalmia...

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Identifiers

PMID: 38821055
DOI: 10.1016/j.stemcr.2024.05.001
PMCID: PMC11390689

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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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