in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
[No authors listed]
摘要
Background: segregates with ASD phenotype. Methods:Clinical phenotyping, microarray, and whole genome sequencing (WGS) were performed on the five members of this family. Maternal and female sibling X inactivation ratio was calculated, and phase was investigated. Mutant-induced pluripotent stem cells engineered for an exon 2 nonsense mutation were generated and differentiated into cortical neurons for expression and pathway analyses. Results: revealed an impact on expression in differentiated neurons for several genes implicated in brain development and function, supported by our pathway enrichment analysis. Conclusions: mutations. A critical role for this gene in brain development and function is demonstrated.
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基因功能
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原始数据
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文献解读
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