Schizophrenia with the 22q11.2 deletion and additional genetic defects: case history
نویسندگان
چکیده
منابع مشابه
Schizophrenia with the 22q11.2 deletion and additional genetic defects: case history.
The 22q11.2 deletion is the most prominent known genetic risk factor for schizophrenia, but its penetrance is at most approximately 50% suggesting that additional risk factors are required for disease progression. We examined a woman with schizophrenia with this deletion for such risk factors. She had high plasma pentosidine levels ('carbonyl stress') and a frameshift mutation in the responsibl...
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ژورنال
عنوان ژورنال: British Journal of Psychiatry
سال: 2011
ISSN: 0007-1250,1472-1465
DOI: 10.1192/bjp.bp.111.093849