Phenotype and psychometric characterization of Phelan-McDermid syndrome patients: pioneering towards personalized medicine

Phenotype and psychometric characterization of Phelan-McDermid syndrome patients: pioneering towards personalized medicine

IntroductionPhelan-McDermid syndrome (PMS) is a genetic disorder caused by the loss of the terminal region of chromosome 22 or by pathogenic or likely-pathogenic variants in SHANK3 gene. Individuals with PMS are affected by a variable degree of intellectual disability, delay or absence of speech, lo...

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Bibliographic Details
Main Authors: Julián Nevado, Filippo Ciceri, Cristina Bel-Fenellós, Jair A. Tenorio-Castaño, Tamara Maes, Jordi Xaus, Carlos Buesa, Pablo Lapunzina
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Psychiatry
Subjects:
Phelan McDermid
personalized medicine
aggressively
cognitive-behavioral aspects
genomic medicine
SHANK3 gene
Online Access:https://www.frontiersin.org/articles/10.3389/fpsyt.2025.1511962/full
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https://www.frontiersin.org/articles/10.3389/fpsyt.2025.1511962/full

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