Pereira, D. de A.; Vieira, M. W. .; Watanabe, C.; Mariano, M. H.; Marcon, N.; Ribeiro, L. L.; Sasaki, J. N. M. Sporadic Heterozygous Frameshift Mutation of BRSK2 Causing Neurodevelopmental Disorder and Optic Nerve Hypoplasia Plus: Case Report. Rev Neurocienc 2023, 31, 1-9.