Article
Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.
PloS one - 1 Jan 2015
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
Abstract excerpt
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 ASD. METHODS: We identified a family segregating ASD in three siblings with an unidentified cause. We performed WGS...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.