Article
Dopamine dysfunction in 22q11 deletion syndrome: possible cause of motor symptoms.
Psychiatric genetics - 1 Oct 2016
Casarelli Livia, Minnei Maurizio, Pitzianti Mariabernarda, Armando Marco, Pontillo Maria, Vicari Stefano, Pasini Augusto
Abstract excerpt
22q11 Deletion syndrome (22q11DS) is a neurogenetic disorder, resulting from a hemizygous microdeletion on the long arm of chromosome 22. In 22q11DS, the phenotypic expression is highly variable. Approximately one-third of all individuals with 22q11DS develop schizophrenia-like psychotic disorder. Among the genes in the deleted region, catechol-O-methyltransferase (COMT) has a particular relevance for psychiatric...
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