Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Laura Castilla-VallmanyaMónica Centeno-PlaMercedes SerranoHéctor Franco-VallsRaúl Martínez-CabreraAina Prat-PlanasElena RojanoJuan A G RaneaPedro SeoaneClara OlivaAbraham J Paredes-FuentesGemma MarfanyRafael ArtuchDaniel GrinbergRaquel Rabionet JanssenSusanna BalcellsRoser UrreiztiPublished in: Journal of medical genetics (2022)
mRNA levels might be promising biomarkers for SYS. Our findings may improve SYS understanding and clinical management.
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