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Article

Behavioral Features in Phelan-McDermid Syndrome: Characteristics and Genetic and Metabolic Contributions in a Cohort of 56 Individuals.

Genes - 8 Feb 2026

Payne Emily, Moffitt Bridgette A, Oberman Lindsay M, Beamer Laura, Srikanth Sujata, Cascio Lauren Nicole, Jones Kelly, Jain Lavanya, Pauly Rini, May Melanie, Skinner Cindy, Buchanan Carrie, DuPont Barbara G, Martin Rebekah R, Rogers R Curtis, Phelan Katy, Sarasua Sara M, Kaufmann Walter E, Boccuto Luigi

Abstract excerpt

Background/Objectives: Phelan-McDermid syndrome (PMS), caused by either chromosome 22q13.3 deletions or pathogenic/likely pathogenic variants in the SHANK3 gene, is a rare neurodevelopmental disorder. Behavioral issues greatly impair the quality of life for affected individuals and their families. This genotype-phenotype study intended to further characterize key behavioral features and their genetic and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41751586
DOI: 10.3390/genes17020202
PMCID: PMC12940330

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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