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Article

TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

American journal of medical genetics. Part A - 1 Mar 2014

Palumbo Orazio, Fichera Marco, Palumbo Pietro, Rizzo Renata, Mazzolla Elisabetta, Cocuzza Donatella Maria, Carella Massimo, Mattina Teresa

Abstract excerpt

Interstitial deletion of 2q24.2 is a rarely described cytogenetic aberration in patients with intellectual disability (ID). Previously reported genotype-phenotype correlation identified a minimum deleted region of 2.65 Mb including 15 genes. Recently, a patient with a de novo 2q24.2 microdeletion of 0.4 Mb encompassing only three genes was described. However, the precise relationship between most deleted genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24458984
DOI: 10.1002/ajmg.a.36363

Genes

TBR1

Provenance

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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