Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees

Autism spectrum disorder (ASD) is a relatively common childhood onset neurodevelopmental disorder with a complex genetic etiology. While progress has been made in identifying the de novo mutational landscape of ASD, the genetic factors that underpin the ASD's tendency to run in families are not...

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Veröffentlicht in:	American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2020-07, Vol.183 (5), p.268-276
Hauptverfasser:	Woodbury‐Smith, Marc, Zarrei, Mehdi, Wei, John, Thiruvahindrapuram, Bhooma, O'Connor, Irene, Paterson, Andrew D., Yuen, Ryan K. C., Dastan, Jila, Stavropoulos, Dimitri J., Howe, Jennifer L., Thompson, Ann, Parlier, Morgan, Fernandez, Bridget, Piven, Joseph, Anagnostou, Evdokia, Scherer, Stephen W., Vieland, Veronica J., Szatmari, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism autism spectrum disorder (ASD) Autism Spectrum Disorder - genetics Autistic Disorder - genetics Child Child, Preschool Children Copy number copy number variants (CNVs) DNA Copy Number Variations DNA Mutational Analysis Etiology extended pedigrees Female Gene Dosage Genetic factors Genetic Linkage Genetic Predisposition to Disease Genetics Genome-Wide Association Study Genotype heritable genetics Humans Infant Male Mutation Nerve Tissue Proteins - genetics Neurodevelopmental disorders Pedigree Phenotype Phenotypes Risk Factors Synapses - metabolism Whole Genome Sequencing
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