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Article

MAGEL2 (patho-)physiology and Schaaf-Yang syndrome.

Developmental medicine and child neurology - 1 Jan 2025

Schubert Tim, Schaaf Christian P

Abstract excerpt

Schaaf-Yang syndrome (SYS) is a complex neurodevelopmental disorder characterized by autism spectrum disorder, joint contractures, and profound hypothalamic dysfunction. SYS is caused by variants in MAGEL2, a gene within the Prader-Willi syndrome (PWS) locus on chromosome 15. In this review, we consolidate decades of research on MAGEL2 to elucidate its physiological functions. Moreover, we synthesize current...

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Source

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Identifiers

PMID: 38950199
DOI: 10.1111/dmcn.16018
PMCID: PMC11625468

Genes

MAGEL2

Provenance

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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