1. Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3. Issue 11 (18th August 2020) Authors: Paternoster, Lionel; Soblet, Julie; Aeby, Alec; De Tiège, Xavier; Goldman, Serge; Yue, Wyatt W.; Coppens, Sandra; Smits, Guillaume; Vilain, Catheline; Deconinck, Nicolas Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2685 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗