Article

Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

2022-07-10

Abstract excerpt

<h4>ABSTRACT</h4> Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused at least in part by haploinsufficiency of the SHANK3 gene, due to sequence variants in SHANK3 or subtelomeric 22q13.3 deletions. Phenotypic differences have been reported between PMS participants carrying small ‘Class I’ mutations and large ‘Class II’ mutations, however the molecular perturbations underlying these diverge...

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Literature Corpus work: 4c5303a7-f9ec-5993-9369-af0ed63449c7
DOI: 10.1101/2022.07.06.22277334

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