Genetic & Genomic MedicineHuman Genetics and Genomics AdvancesPeer-reviewed
Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome
Michael S. Breen, Xuanjia Fan, Tess Levy…·Jennifer M. Phillips
This study identifies molecular differences between PMS patients with small and large deletions, showing reduced cytotoxic cell signatures and sphingolipid metabolism in large deletions.
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