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Article

Expression of Genes in the 16p11.2 Locus during Development of the Human Fetal Cerebral Cortex

4 Mar 2021

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 16p11.2...

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PMID: 33825894
DOI: 10.1093/cercor/bhab067

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