A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation. [electronic resource]
Producer: 20120524Description: 743-52 p. digitalISSN:- 1479-683X
- CD28 Antigens -- metabolism
- Cells, Cultured
- Child, Preschool
- Chromosome Duplication
- Chromosomes, Human, Pair 17 -- genetics
- Enzyme Activation
- Female
- Humans
- Laron Syndrome -- blood
- Mosaicism
- NF-kappa B -- metabolism
- Phosphatidylinositol 3-Kinases -- metabolism
- STAT5 Transcription Factor -- genetics
- Signal Transduction -- genetics
- Transcriptional Activation
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Publication Type: Case Reports; Journal Article
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