Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results

ASD genetic diagnosis has dramatically improved due to NGS technologies, and many new causative genes have been discovered. Consequently, new ASD phenotypes have emerged. An extensive exome sequencing study carried out by the Autism Sequencing Consortium (ASC) was published in February 2020. The stu...

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Autores principales: Carla Lintas, Roberto Sacco, Alessia Azzarà, Ilaria Cassano, Fiorella Gurrieri
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
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ASD
R
Acceso en línea:https://doaj.org/article/e642b7f64a9942068e25747356164834
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