1. Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. (5th June 2020) Authors: Slavotinek, Anne; Misceo, Doriana; Htun, Stephanie; Mathisen, Linda; Frengen, Eirik; Foreman, Michelle; Hurtig, Jennifer E; Enyenihi, Liz; Sterrett, Maria C; Leung, Sara W; Schneidman-Duhovny, Dina; Estrada-Veras, Juvianee; Duncan, Jacque L; Haaxma, Charlotte A; Kamsteeg, Erik-Jan; Xia, Vivian; B... Journal: Human molecular genetics Issue: Volume 29:Number 13(2020) Page Start: 2218 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗