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Article

PARK2 microdeletion in a multiplex family with autism spectrum disorder.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Feb 2023

Barone Rita, Cirnigliaro Lara, Saccuzzo Lucia, Valdese Silvia, Pettinato Fabio, Prato Adriana, Bernardini Laura, Fichera Marco, Rizzo Renata

Abstract excerpt

BACKGROUND: PARK2 (PRKN; MIM*602544) encodes Parkin protein, an ubiquitin-protein ligase required for proteasomal degradation and operating in the synaptic compartments. Copy number variations (CNVs) involving PARK2 have been associated with autism spectrum disorder (ASD). We report on a family with ASD (multiplex family) harbouring a microdeletion at chr. 6q26 causing PARK2 disruption. METHODS: CNV analyses were...

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PMID: 36478299
DOI: 10.1002/jdn.10246

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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