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. 2022 Sep 7;60(4):406–415. doi: 10.1136/jmg-2022-108690

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© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

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Schematisation of the relationship between the different biomarkers identified in the Schaaf-Yang syndrome (SYS) fibroblasts. The increased levels of HOTAIR could lead to the upregulation of mTOR (mammalian target of rapamycin) previously seen in the literature as well as the deregulation of glucose uptake through GLUT1 (glucose transporter 1). Ac.CoA, Acetyl-coenzyme A; GDH, glutamate dehydrogenase; SIRT4, sirtuin 4; SNAP23, Synaptosome Associated Protein 23.