Metabolic and neuroactivity imbalances in plasma from aniridia patients with PAX6 haploinsufficiency
Dulce Lima Cunha, Vivienne Kit, Jane S. Skinner, Ailsa A. Welch, Mariya Moosajee
This study identifies metabolic and neuroactivity imbalances in plasma from PAX6 haploinsufficient aniridia patients, highlighting systemic effects beyond ocular defects.
bioRxiv · Nov 7, 2024 · PreprintGenetics