Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.

Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.

<h4>Introduction</h4>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 diag...

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Main Authors: Sergio I Nemirovsky, Marta Córdoba, Jonathan J Zaiat, Sabrina P Completa, Patricia A Vega, Dolores González-Morón, Nancy M Medina, Mónica Fabbro, Soledad Romero, Bianca Brun, Santiago Revale, María Florencia Ogara, Adali Pecci, Marcelo Marti, Martin Vazquez, Adrián Turjanski, Marcelo A Kauffman
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0116358&type=printable
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