Associated Papers
The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.
Valentin I et al.
Clinical Genetics, 2025
Disrupted protein interaction dynamics in a genetic neurodevelopmental disorder revealed by structural bioinformatics and genetic code expansion.
Marino V et al.
Protein Science : a Publication of the Protein Society, 2024
Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.
Bertacchi M et al.
Cells, 2022
35455940 (PubMed )
Supplement: cells-11-01260-s001.zip › cells-1604531-supplementary.pdf
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
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.
Bertacchi M et al.
The Embo Journal, 2020
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