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Article

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.

Italian journal of pediatrics - 28 Apr 2014

Caramaschi Elisa, Stanghellini Ilaria, Magini Pamela, Giuffrida Maria Grazia, Scullin Silvia, Giuva Tiziana, Bergonzini Patrizia, Guerra Azzurra, Paolucci Paolo, Percesepe Antonio

Abstract excerpt

BACKGROUND: Array comparative genomic hybridization (a-CGH) has become the first-tier investigation in patients with unexplained developmental delay/intellectual disability (DD/ID). Although the costs are progressively decreasing, a-CGH is still an expensive and labour-intensive technique: for th...

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Identifiers

PMID: 24775911
DOI: 10.1186/1824-7288-40-39
PMCID: PMC4014206

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24775911-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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