Psychomotor development and attention problems caused by a splicing variant of CNKSR2.
Yi ZhangTingting YuNiu LiJiwen WangJian WangYihua GeRu-En YaoPublished in: BMC medical genomics (2020)
This is the first report of a splicing variant of CNKSR2, and the unique clinical features of this pedigree will help extend our understanding of the genetic and phenotypic spectra of CNKSR2-related disorders.