Associated Papers
The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.
Valentin I et al.
Clinical Genetics, 2025
Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.
Liang Y et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024
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
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Rech ME et al.
American Journal of Medical Genetics. Part A, 2020
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