FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. [electronic resource]
Producer: 20070112Description: 2482-7 p. digitalISSN:- 1552-4825
- Adaptor Proteins, Signal Transducing
- Adult
- Cell Adhesion Molecules
- Cell Adhesion Molecules, Neuronal -- genetics
- Chromosome Aberrations
- Chromosome Deletion
- Chromosomes, Human, Pair 3 -- genetics
- Contactins
- Cytogenetics
- Female
- Gene Dosage
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability -- genetics
- Membrane Proteins -- genetics
- Oligonucleotide Array Sequence Analysis
- Peptide Hydrolases -- genetics
- Phenotype
- Ubiquitin-Protein Ligases
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Publication Type: Case Reports; Journal Article
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