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Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder

It has been proposed that copy number variations (CNVs) are associated with increased risk of autism spectrum disorder (ASD) and, in conjunction with other genetic changes, contribute to the heterogeneity of ASD phenotypes. Array comparative genomic hybridization (aCGH) and exome sequencing, togethe...

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Detalles Bibliográficos
Autores principales: Reis, Viviane Neri de Souza, Kitajima, João Paulo, Tahira, Ana Carolina, Feio-dos-Santos, Ana Cecília, Fock, Rodrigo Ambrósio, Lisboa, Bianca Cristina Garcia, Simões, Sérgio Nery, Krepischi, Ana C. V., Rosenberg, Carla, Lourenço, Naila Cristina, Passos-Bueno, Maria Rita, Brentani, Helena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5261619/
https://www.ncbi.nlm.nih.gov/pubmed/28118382
http://dx.doi.org/10.1371/journal.pone.0170386