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Article

Developmental perspectives on copy number abnormalities of the 22q11.2 region.

Clinical genetics - 1 Sept 2010

Tan T Y, Gordon C T, Amor D J, Farlie P G

Abstract excerpt

The 22q11.2 chromosomal landscape predisposes to genomic rearrangements that are associated with a variety of clinical phenotypes. The most well known of these include the 22q11.2 deletion and Cat-eye syndromes (CES), but more recently other copy number abnormalities have been recognised, especially with increased use of microarrays in the investigation of patients with congenital malformations or cognitive...

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Source

Identifiers

PMID: 20497193
DOI: 10.1111/j.1399-0004.2010.01456.x

Genes

TBX1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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