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Article

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.

American journal of human genetics - 5 Oct 2017

Loviglio Maria Nicla, Arbogast Thomas, Jønch Aia Elise, Collins Stephan C, Popadin Konstantin, Bonnet Camille S, Giannuzzi Giuliana, Maillard Anne M, Jacquemont Sébastien, Yalcin Binnaz, Katsanis Nicholas, Golzio Christelle, Reymond Alexandre

Abstract excerpt

Copy-number changes in 16p11.2 contribute significantly to neuropsychiatric traits. Besides the 600 kb BP4-BP5 CNV found in 0.5%-1% of individuals with autism spectrum disorders and schizophrenia and whose rearrangement causes reciprocal defects in head size and body weight, a second distal 220 kb BP2-BP3 CNV is likewise a potent driver of neuropsychiatric, anatomical, and metabolic pathologies. These two CNVs...

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Source

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Identifiers

PMID: 28965845
DOI: 10.1016/j.ajhg.2017.08.016
PMCID: PMC5630231

Genes

LAT
KCTD13
MAPK3
MVP
ZAP70

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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