Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGFB responses through SKI stabilization

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001006801	RNA-seq of dermal fibroblasts treated ± TGF-β from control and Shprintzen-Goldberg syndrome patients.	Illumina HiSeq 4000	36

Publications	Citations
Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization. Gori I, George R, Purkiss AG, Strohbuecker S, Randall RA, Ogrodowicz R, Carmignac V, Faivre L, Joshi D, Kjær S, Hill CS. Elife 10: 2021 e63545	14