Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies <em>CAPG</em> as a Functionally Relevant Candidate Gene

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies <em>CAPG</em> as a Functionally Relevant Candidate Gene

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with high heritability, although their underlying genetic factors are still largely unknown. Here we present a comprehensive genetic characterization of two ASD siblings from Sardinia by genome-wide copy number variation an...

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Bibliographic Details
Main Authors: Elena Bacchelli, Eleonora Loi, Cinzia Cameli, Loredana Moi, Ana Florencia Vega Benedetti, Sylvain Blois, Antonio Fadda, Elena Bonora, Sandra Mattu, Roberta Fadda, Rita Chessa, Elena Maestrini, Giuseppe Doneddu, Patrizia Zavattari
Format: Article
Language:English
Published: MDPI AG 2019-02-01
Series:Journal of Clinical Medicine
Subjects:
autism spectrum disorder
ASD
CAPG
VDAC3
postsynaptic density proteins
PSD proteins
Online Access:https://www.mdpi.com/2077-0383/8/2/212

Internet

https://www.mdpi.com/2077-0383/8/2/212

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