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Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness.

Source: NeuroImage 2020 Feb;appiajp201919060583.
Author: Christopher R.K. Ching, Ph.D., Boris A. Gutman, Ph.D., Daqiang Sun, M.D., Julio Villalon Reina, M.D., Ph.D., Anjanibhargavi Ragothaman
PubMed ID: 32046535

22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Previous studies have reported variable alterations in subcortical brain structures in 22q11DS. To better characterize subcortical alterations in 22q11DS, including modulating effects of clinical and genetic heterogeneity, the authors studied a large multicenter neuroimaging cohort from the ENIGMA 22q11.2 Deletion Syndrome Working Group.