Article
The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan.
Biological psychiatry - 1 Mar 2014
Jonas Rachel K, Montojo Caroline A, Bearden Carrie E
Abstract excerpt
Evidence is rapidly accumulating that rare, recurrent copy number variants represent large effect risk factors for neuropsychiatric disorders. 22q11.2 deletion syndrome (22q11DS) (velocardiofacial syndrome or DiGeorge syndrome) is the most common known contiguous gene deletion syndrome and is associated with diverse neuropsychiatric disorders across the life span. One of the most intriguing aspects of the...
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