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Article

Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism.

Genome research - 1 Jan 2000

Annear Dale J, Vandeweyer Geert, Sanchis-Juan Alba, Raymond F Lucy, Kooy R Frank

Abstract excerpt

As expansions of CGG short tandem repeats (STRs) are established as the genetic etiology of many neurodevelopmental disorders, we aimed to elucidate the inheritance patterns and role of CGG STRs in autism-spectrum disorder (ASD). By genotyping 6063 CGG STR loci in a large cohort of trios and quads with an ASD-affected proband, we determined an unprecedented rate of CGG repeat length deviation across a single...

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PMID: 36351771
DOI: 10.1101/gr.277011.122
PMCID: PMC9808627

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