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Mutations in the TGF-? repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
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Mutations in the TGF-? repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Mutations in the TGF-? repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet. 2012 Nov; 44(11):1249-54.
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PubMed
subject areas
Animals
Aortic Aneurysm
Arachnodactyly
Cells, Cultured
Craniosynostoses
DNA-Binding Proteins
Fibroblasts
Humans
Loeys-Dietz Syndrome
Marfan Syndrome
Mice
Mutation
Phenotype
Phosphorylation
Proto-Oncogene Proteins
Signal Transduction
Transforming Growth Factor beta
Zebrafish
authors with profiles
Russell A Norris