Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. [electronic resource]
Producer: 20130404Description: 1249-54 p. digitalISSN:- 1546-1718
- Animals
- Aortic Aneurysm -- genetics
- Arachnodactyly -- genetics
- Cells, Cultured
- Craniosynostoses -- genetics
- DNA-Binding Proteins -- genetics
- Fibroblasts
- Humans
- Loeys-Dietz Syndrome -- genetics
- Marfan Syndrome -- genetics
- Mice
- Mutation
- Phenotype
- Phosphorylation
- Proto-Oncogene Mas
- Proto-Oncogene Proteins -- genetics
- Signal Transduction
- Transforming Growth Factor beta -- antagonists & inhibitors
- Zebrafish
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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