期刊
TRENDS IN GENETICS
卷 25, 期 12, 页码 528-535出版社
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2009.10.004
关键词
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资金
- Ted and Vada Stanley
- Simons Foundation
- National Institutes of Health (NIH) [MH076431, HF004222, MH071523, MH31340]
- NARSAD
- Essel Foundation
- Sidney R. Baer Jr Foundation
Recent studies have established an important role for rare genomic deletions and duplications in the etiology of schizophrenia. This research suggests that the genetic architecture of neuropsychiatric disorders includes a constellation of rare mutations in many different genes. Mutations that confer substantial risk for schizophrenia have been identified at several loci, most of which have also been implicated in other neurodevelopmental disorders, including autism. Genetic heterogeneity is a characteristic of schizophrenia; conversely, phenotypic heterogeneity is a characteristic of all schizophrenia-associated mutations. Both kinds of heterogeneity probably reflect the complexity of neurodevelopment. Research strategies must account for both genetic and clinical heterogeneity to identify the genes and pathways crucial for the development of neuropsychiatric disorders.
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