Xiaoqiang Cai

A novel splice-site variant in CNKSR2 causes exon 16 skipping and X-linked syndromic intellectual developmental disorder

CNKSR2 -related neurodevelopmental disorder is an X-linked condition characterized by developmental delay, severe language impairment, intellectual disability, and early-onset epilepsy. Although splice-altering variants constitute an important proportion of pathogenic CNKSR2 vari...