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Article

Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.

Cytogenetic and genome research - 1 Jan 2009

Krepischi-Santos A C V, Rajan D, Temple I K, Shrubb V, Crolla J A, Huang S, Beal S, Otto P A, Carter N P, Vianna-Morgante A M, Rosenberg C

Abstract excerpt

Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment and normal karyotypes. A few cases have been reported of mental impairment with microdeletions comprising tumor suppressor genes. By array-CGH we detected 4 mentally impaired individuals carrying d...

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Share to Apoptosis Regulatory Proteins
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Disks Large Homolog 4 Protein

Share to Genes, Tumor Suppressor

Share to Microtubule-Associated Proteins

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Source

Open in PubMed Open full text

Identifiers

PMID: 19617690
DOI: 10.1159/000218743
PMCID: PMC2813804

Genes

DLG4
GPS2
KCTD11
GABARAP
REN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19617690-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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