Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-beta responses through SKI stabilization.
Gori I, George R, Purkiss AG, Strohbuecker S, Randall RA, Ogrodowicz R, Carmignac V, Faivre L, Joshi D, Kjaer S, Hill CS
Elife. 2021 Jan 8;10. pii: 63545. doi: 10.7554/eLife.63545.
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