Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders

BACKGROUND: Neurodevelopmental and neuropsychiatric disorders represent a wide spectrum of heterogeneous yet inter-related disease conditions. The overlapping clinical presentations of these diseases suggest a shared genetic etiology. We aim to identify shared structural variants spanning the spectr...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Glessner, Joseph T., Li, Jin, Wang, Dai, March, Michael, Lima, Leandro, Desai, Akshatha, Hadley, Dexter, Kao, Charlly, Gur, Raquel E., Cohen, Nadine, Sleiman, Patrick M. A., Li, Qingqin, Hakonarson, Hakon
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5709845/
https://ncbi.nlm.nih.gov/pubmed/29191242
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0494-1
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