SON

Publications

Kim J H et al. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet 2016;1;99(3):711-719.  PMID: 27545680.

Tokita M et al. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet 2016;1;99(3):720-727.  PMID: 27545676.