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Article

Remote Language Assessment in School-Age Children With Phelan-McDermid Syndrome and Genotype-Phenotype Correlation.

American journal of medical genetics. Part A - 1 Aug 2026

Quadri-Valverde Sarah, Klusek Jessica, Ward Linda D, Ivankovic Diana, Powers Nancy, Shankar Vijay, Lyman Rachel A, Mackay Trudy F C, Bridges William, Phelan Katy, Rogers Curtis, Boccuto Luigi, Sarasua Sara M

Abstract excerpt

People with Phelan-McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school-aged children with PMS, identifying genetic contributions to language and communication abilities, and determining the feasibility of remote data...

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PMID: 41845542
DOI: 10.1002/ajmg.a.70117

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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