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De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth

Yu An, Linna Zhang, Wenwen Liu, Yunyun Jiang, Chen Xue, Xiaoping Lan, Gan Li, Qiang Hang, Jian Wang, James F. Gusella, Yasong Du, Yiping Shen

2020Human Genetics46 citationsDOI

Topics & Concepts

MacrocephalyGeneticsBiologyAutismAutism spectrum disorderChromodomainPhenotypeMissense mutationIntellectual disabilityExome sequencingMECP2GeneMedicineHelicasePsychiatryRNAGenetics and Neurodevelopmental DisordersChromosomal and Genetic VariationsGenomic variations and chromosomal abnormalities
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth | Litcius