Article
Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.
Disease models & mechanisms - 1 Oct 2025
Maass Johann G, Kamionek Dominik, Mantilleri Annabelle, Theiss Susanne, Dötsch Laura, Franke Felix, Schubert Tim, Scheck Jonas G, Pitzer Claudia, Piovani Paolo, Bertacchi Michele, Deschaux Olivier, Singh Anubhav, Chen Chun-An, Fröhlich Henning, Studer Michèle, Schaaf Christian P
Abstract excerpt
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare, autosomal dominant neurodevelopmental disorder caused by pathogenic variants in NR2F1, characterized by developmental delay, intellectual disability, optic nerve anomalies and autism spectrum disorder. Most pathogenic variants cluster within the highly conserved DNA-binding domain (DBD) or ligand-binding domain (LBD) of NR2F1 and are associated with...
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