Article
The psychiatric phenotypes of 1q21 distal deletion and duplication.
Translational psychiatry - 4 Feb 2021
Linden Stefanie C, Watson Cameron J, Smith Jacqueline, Chawner Samuel J R A, Lancaster Thomas M, Evans Ffion, Williams Nigel, Skuse David, Raymond F Lucy, Hall Jeremy, Owen Michael J, Linden David E J, Green-Snyder LeeAnne, Chung Wendy K, Maillard Anne M, Jacquemont Sébastien, van den Bree Marianne B M
Abstract excerpt
Copy number variants are amongst the most highly penetrant risk factors for psychopathology and neurodevelopmental deficits, but little information about the detailed clinical phenotype associated with particular variants is available. We present the largest study of the microdeletion and -duplication at the distal 1q21 locus, which has been associated with schizophrenia and intellectual disability, in order to...
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