A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14. [electronic resource]
- American journal of medical genetics. Part A Apr 2013
- 841-4 p. digital
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.35751 doi
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