Article

Phelan-McDermid Syndrome. Expanding the Genotype-Phenotype Landscape

2026-08-28

Abstract excerpt

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder resulting from haploinsufficiency of SHANK3, caused by 22q13 deletions encompassing SHANK3 or pathogenic SHANK3 sequence variants. While the core clinical features are well described, genotype–phenotype correlations are insufficiently understood. We analyzed clinical and genomic data from 51 pediatric patients with genetically confirmed PMS (32 girls,...

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Literature Corpus work: 247d11ed-16cf-58c9-8b30-07dfb1a882ea
DOI: 10.20944/preprints202608.2043.v1

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