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Article

A De Novo USP24 Variant as a Candidate Driver in a Neurodevelopmental Disorder: Insights from Trio-Based Whole-Exome Sequencing.

International journal of molecular sciences - 2 May 2026

Vinci Mirella, Musumeci Antonino, Treccarichi Simone, Virgillito Miriam, Calì Siria, Gloria Angelo, Federico Concetta, Saccone Salvatore, Elia Maurizio, Calì Francesco

Abstract excerpt

Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), are increasingly recognized as conditions with a complex, multisystemic origin. ASD frequently co-occurs with other neurological conditions, such as epilepsy. We report a female patient, born to unrelated healthy parents, presenting with a complex clinical phenotype characterized by ASD level 1 with fluent speech, borderline...

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Source

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Identifiers

PMID: 42123666
DOI: 10.3390/ijms27094086
PMCID: PMC13164258

Genes

USP24
LRP2
NRXN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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