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Single-cell atlas of the fetal Down syndrome cortex uncovers chromosome 21 regulators of intellectual disability gene networks

2025-12-29

Abstract excerpt

Down syndrome (DS), caused by trisomy of chromosome 21, is the leading genetic cause of intellectual disability, yet the mechanisms disrupting fetal brain development remain unclear. We performed single-cell transcriptomic and chromatin accessibility profiling of approximately 250,000 cells from 15 DS and 15 control human fetal cortices (10–20 weeks post-conception). Our analysis revealed a subtype-specific reduct...

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Literature Corpus work
b935e579-dd6f-574a-8048-66e635fab737
DOI
10.64898/2025.12.29.696602
Open publication

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Single-cell atlas of the fetal Down syndrome cortex uncovers chromosome 21 regulators of intellectual disability gene networksDOI 10.64898/2025.12.29.696602
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