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Adult Neuropsychiatric Expression and Familial Segregation of 2q13 Duplications

New genomic disorders associated with large, rare, recurrent copy number variations (CNVs) are being discovered at a rapid pace. Detailed phenotyping and family studies are rare, however, as are data on adult phenotypic expression. Duplications at 2q13 were recently identified as risk factors for de...

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Bibliografiske detaljer
Udgivet i:Am J Med Genet B Neuropsychiatr Genet
Main Authors: Costain, Gregory, Lionel, Anath C., Fu, Fiona, Stavropoulos, Dimitri J., Gazzellone, Matthew J., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Format: Artigo
Sprog:Inglês
Udgivet: 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4464821/
https://ncbi.nlm.nih.gov/pubmed/24807792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.32236
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