GoriIGeorgeRPurkissAGStrohbueckerSRandallRAOgrodowiczRCarmignacVFaivreLJoshiDKjærSHillCS2020Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilizationEuropean Genome-Phenome ArchiveEGAS00001004908. This evidence concerns the gene TGFB1 and Shprintzen-Goldberg syndrome.