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Article

The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes.

Human molecular genetics - 1 Oct 2017

McCammon Jasmine M, Blaker-Lee Alicia, Chen Xiao, Sive Hazel

Abstract excerpt

Deletion of the 16p11.2 CNV affects 25 core genes and is associated with multiple symptoms affecting brain and body, including seizures, hyperactivity, macrocephaly, and obesity. Available data suggest that most symptoms are controlled by haploinsufficiency of two or more 16p11.2 genes. To identify interacting 16p11.2 genes, we used a pairwise partial loss of function antisense screen for embryonic brain...

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Identifiers

PMID: 28934389
DOI: 10.1093/hmg/ddx255
PMCID: PMC5886277

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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