Article
Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.
Autism research : official journal of the International Society for Autism Research - 1 Aug 2023
Kurtz-Nelson Evangeline C, Rea Hannah M, Petriceks Aiva C, Hudac Caitlin M, Wang Tianyun, Earl Rachel K, Bernier Raphael A, Eichler Evan E, Neuhaus Emily
Abstract excerpt
Likely gene-disrupting (LGD) variants in DYRK1A are causative of DYRK1A syndrome and associated with autism spectrum disorder (ASD) and intellectual disability (ID). While many individuals with DYRK1A syndrome are diagnosed with ASD, they may present with a unique profile of ASD traits. We present a comprehensive characterization of the ASD profile in children and young adults with LGDs in DYRK1A. Individuals...
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