Phenotypic Signatures of CTNNB1 Syndrome: Longitudinal Neuropsychological Outcomes and Three-Dimensional Facial Morphology
Mercè Pallarès‐Sastre, Aroa Casado, Imanol Amayra, Samuel Anguiano, Bastián Escobar-Ramírez, Mireia Andreu-Montoriol, Ona Roure-Ramis, Esther M. Esteban, Xavier Sevillano, Álvaro Heredia-Lidón, Rafael Pulido, Caroline E. Nunes‐Xavier, Ana Rodríguez-Ramos, Sonia Bañuelos, Fabio Cavaliere, , Maitane García
This study provides longitudinal cognitive and facial morphology data for CTNNB1 syndrome, showing stable global functioning and significant facial shape associations with behavioral issues.
medRxiv · Feb 5, 2026 · PreprintGenetic & Genomic Medicine