A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14. [electronic resource]
Producer: 20130909Description: 841-4 p. digitalISSN:- 1552-4833
- Adaptor Proteins, Signal Transducing -- genetics
- Adolescent
- Chromosome Deletion
- Chromosomes, Human, Pair 2
- Comparative Genomic Hybridization
- Dwarfism -- genetics
- Genetic Association Studies
- Humans
- In Situ Hybridization, Fluorescence
- Intellectual Disability -- genetics
- Male
- Mosaicism
- Phenotype
- Proteasome Endopeptidase Complex -- genetics
- T-Box Domain Proteins -- genetics
- Trans-Activators -- genetics
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Publication Type: Case Reports; Journal Article
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