1. Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature. Issue 4 (October 2020) Authors: Türkyilmaz, Ayberk; Türkdoğan, Dilşad; Görmez, Zeliha; Ekinci, Gazanfer Journal: Clinical dysmorphology Issue: Volume 29:Issue 4(2020:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗