Article

Expression of genes in the <i>16p11.2</i> locus during human fetal cortical neurogenesis

2019-05-10

Abstract excerpt

The 593 kbp 16p11.2 copy number variation (CNV) affects the gene dosage of 29 protein coding genes, with heterozygous 16p11.2 microduplication or microdeletion implicated in about 1% of autism spectrum disorder (ASD) cases. The 16p11.2 CNV is frequently associated with macrocephaly or microcephaly indicating early defects of neurogenesis may contribute to subsequent ASD symptoms, but it is unknown which 16p11....

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Literature Corpus work: 7c97f8a4-3968-59d8-b71e-0bb250ce801e
DOI: 10.1101/633461

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