Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

INTRODUCTION: Clinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to...

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Detalles Bibliográficos
Autores principales: Nemirovsky, Sergio I., Córdoba, Marta, Zaiat, Jonathan J., Completa, Sabrina P., Vega, Patricia A., González-Morón, Dolores, Medina, Nancy M., Fabbro, Mónica, Romero, Soledad, Brun, Bianca, Revale, Santiago, Ogara, María Florencia, Pecci, Adali, Marti, Marcelo, Vazquez, Martin, Turjanski, Adrián, Kauffman, Marcelo A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4315573/
https://www.ncbi.nlm.nih.gov/pubmed/25646853
http://dx.doi.org/10.1371/journal.pone.0116358

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