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Article

Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.

Journal of neurodevelopmental disorders - 3 Oct 2024

Asta Lisa, Ricciardello Arianna, Cucinotta Francesca, Turriziani Laura, Boncoddo Maria, Bellomo Fabiana, Angelini Jessica, Gnazzo Martina, Scandolo Giulia, Pisanò Giulia, Pelagatti Francesco, Chehbani Fethia, Camia Michela, Persico Antonio M

Abstract excerpt

BACKGROUND: Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q13.33, and is often associated with Autism Spectrum Disorder (ASD). OBJECTIVES: To assess the clinical and developmental phenotype in a novel sample of PMS patients, including for the first time auxometric trajectories and serotonin blood levels. METHODS: 70 Italian PMS patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39363263
DOI: 10.1186/s11689-024-09572-7
PMCID: PMC11451156

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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