An NR2F1-dependent retinoic acid network controls retinal specialization in mice and reveals foveal hypoplasia in patients with BBSOAS
Paolo Piovani, Carole Belliardo, Rahul Makam, Boglárka Zámbó, Annabelle Mantilleri, Anne‐Amandine Chassot, Gergő Gógl, Christian Patrick Schaaf, Seth Blackshaw, Patrick Yu‐Wai‐Man, Michele Bertacchi, Michèle Studer
The paper identifies an NR2F1-dependent retinoic acid network in mice that regulates retinal specialization and links its disruption to foveal hypoplasia in BBSOAS patients.
bioRxiv · Sep 23, 2026 · PreprintDevelopmental Biology