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Article

The Impact of 8p23 Copy Number Variations on Neurodevelopmental Aetiology: A Focus on Rare Deletions.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 May 2026

Güleç Ahmet, Gerik-Celebi Hamide Betul

Abstract excerpt

OBJECTIVE: Copy number variations (CNVs) involving the 8p23 chromosomal region have been increasingly associated with neurodevelopmental disorders (NDDs); however, the distal 8p23.1-p23.3 subregion remains poorly characterized. This study aimed to describe the clinical and genomic features of paediatric patients with rare 8p23 CNVs and to explore potential genotype-phenotype associations within a case-series...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42049252
DOI: 10.1002/jdn.70130

Genes

TDRP
ARHGEF10
CSMD1
DLGAP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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