Published in
Elsevier, Biological Psychiatry, 5(75), p. 371-377
DOI: 10.1016/j.biopsych.2013.05.040
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Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia
Journal article published in 2013 by
Jennifer Gladys Mulle,
Ann E. Pulver,
John M. McGrath,
John A. McGrath,
Paula S. Wolyniec,
Anne F. Dodd,
David J. Cutler,
Jonathan Sebat 
,
Dheeraj Malhotra,
Gerald Nestadt,
Donald F. Conrad,
Matthew Hurles,
Chris P. Barnes,
Masashi Ikeda,
Nakao Iwata
and other authors.
,
Dheeraj Malhotra,
Gerald Nestadt,
Donald F. Conrad,
Matthew Hurles,
Chris P. Barnes,
Masashi Ikeda,
Nakao Iwata
and other authors.
This paper is available in a repository.
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Abstract
Several copy number variants (CNVs) have been implicated as susceptibility factors for schizophrenia (SZ). Some of these same CNVs also increase risk for autism spectrum disorders, suggesting an etiologic overlap between these conditions. Recently, de novo duplications of a region on chromosome 7q11.23 were associated with autism spectrum disorders. The reciprocal deletion of this region causes Williams-Beuren syndrome.