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Open access Sep 2026

Early Eye Organoids Demonstrate Cadherin and Semaphorin Disruption in PAX6-Related Aniridia

The paired box transcription factor PAX6 is a master regulator of eye development. Pathogenic PAX6 variants predominantly cause aniridia, resulting in a wide range of ocular anomalies affecting both the anterior and posterior segments of the eye. However, a detailed examination of the transcriptomic alterations that oc...

Nicola Cronbach, Gabriela Justynska, Cécile Méjécase et al. · 0 citations

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