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Article

Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder.

Nature communications - 1 Sept 2021

de Jong Job O, Llapashtica Ceyda, Genestine Matthieu, Strauss Kevin, Provenzano Frank, Sun Yan, Zhu Huixiang, Cortese Giuseppe P, Brundu Francesco, Brigatti Karlla W, Corneo Barbara, Migliori Bianca, Tomer Raju, Kushner Steven A, Kellendonk Christoph, Javitch Jonathan A, Xu Bin, Markx Sander

Abstract excerpt

We utilized forebrain organoids generated from induced pluripotent stem cells of patients with a syndromic form of Autism Spectrum Disorder (ASD) with a homozygous protein-truncating mutation in CNTNAP2, to study its effects on embryonic cortical development. Patients with this mutation present with clinical characteristics of brain overgrowth. Patient-derived forebrain organoids displayed an increase in volume...

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Identifiers

PMID: 34471112
DOI: 10.1038/s41467-021-24358-4
PMCID: PMC8410758

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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