Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG 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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Vydáno v:J Clin Med
Hlavní autoři: Bacchelli, Elena, Loi, Eleonora, Cameli, Cinzia, Moi, Loredana, Benedetti, Ana Florencia Vega, Blois, Sylvain, Fadda, Antonio, Bonora, Elena, Mattu, Sandra, Fadda, Roberta, Chessa, Rita, Maestrini, Elena, Doneddu, Giuseppe, Zavattari, Patrizia
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2019
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6406497/
https://ncbi.nlm.nih.gov/pubmed/30736458
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm8020212
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