Global increases in both common and rare copy number load associated with autism

Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been documented. We examined CNV data from 516 individual...

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Detalles Bibliográficos
Autores principales: Girirajan, Santhosh, Johnson, Rebecca L., Tassone, Flora, Balciuniene, Jorune, Katiyar, Neerja, Fox, Keolu, Baker, Carl, Srikanth, Abhinaya, Yeoh, Kian Hui, Khoo, Su Jen, Nauth, Therese B., Hansen, Robin, Ritchie, Marylyn, Hertz-Picciotto, Irva, Eichler, Evan E., Pessah, Isaac N., Selleck, Scott B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3690969/
https://www.ncbi.nlm.nih.gov/pubmed/23535821
http://dx.doi.org/10.1093/hmg/ddt136

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