Arnaud P et al. A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis. Hum Genet. 2020;139(4):461-472. PMID: 31980905.
Doyle AJ et al. Mutations in the TGFβ repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet. 2012;44(11):1249-54. PMID: 23023332.
Schepers D et al. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. Eur J Hum Genet. 2015;23(2):224-8. PMID: 24736733.