Associated Papers
The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.
Valentin I et al.
Clinical Genetics, 2025
Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.
Bertacchi M et al.
Cells, 2022
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
Billiet B et al.
Human Mutation, 2022
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Jurkute N et al.
Brain Communications, 2021
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
Balciuniene J et al.
Jama Network Open, 2019
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