Article
The autism spectrum phenotype in ADNP syndrome.
Autism research : official journal of the International Society for Autism Research - 1 Sept 2018
Arnett Anne B, Rhoads Candace L, Hoekzema Kendra, Turner Tychele N, Gerdts Jennifer, Wallace Arianne S, Bedrosian-Sermone Sandra, Eichler Evan E, Bernier Raphael A
Abstract excerpt
Pathogenic disruptions to the activity-dependent neuroprotector homeobox (ADNP) gene are among the most common heterozygous genetic mutations associated with autism spectrum disorders (ASDs). Individuals with ADNP disruptions share a constellation of medical and psychiatric features, including ASD, intellectual disability (ID), dysmorphic features, and hypotonia. However, the profile of ASD symptoms associated...
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