Article

Multi-omics profiling reveals MAGEL2-driven defects in human corticogenesis shared across Prader-Willi and Schaaf-Yang syndromes

2026-05-05

Abstract excerpt

<h4>SUMMARY</h4> The human cortex acquires its advanced cognitive capacity through tightly regulated developmental programs, disruption of which underlies neurodevelopmental disorders such as Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). While SYS results from pathogenic variants in the imprinted gene MAGEL2 , PWS arises from chromosomal deletions, imprinting defects or uniparental disomy encompass...

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Literature Corpus work: 7846905a-2305-5b8b-9879-467ec5be0b7d
DOI: 10.64898/2026.05.01.722223

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