NR2F1 and Bosch-Boonstra-Schaaf optic atrophy syndrome: The subtle cortical malformations were revealed in the patients with BBSOAS and the cortical abnormality was confirmed in BBSOAS mouse model to be associated with an NR2F1 gene.[14] It is mentioned in particular that the molecular genetic testing is essential to identically further clarify the diagnosis of fetuses with suspected septo-optic dysplasia and other abnormal structures close to midline in the brain, which might be a series of milestones of early fetal brain development manifestations related to BBSOAS.