CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree

Although deletions of CHRNA7 have been associated with intellectual disability (ID), seizures and neuropsychiatric phenotypes, the pathogenicity of CHRNA7 duplications has been uncertain. We present the first report of CHRNA7 triplication. Three generations of a family affected with various neuropsy...

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Detalhes bibliográficos
Main Authors: Soler-Alfonso, Claudia, Carvalho, Claudia MB, Ge, Jun, Roney, Erin K, Bader, Patricia I, Kolodziejska, Katarzyna E, Miller, Rachel M, Lupski, James R, Stankiewicz, Pawel, Cheung, Sau Wai, Bi, Weimin, Schaaf, Christian P
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4135413/
https://ncbi.nlm.nih.gov/pubmed/24424125
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.302
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