Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review

Conclusion RNF216-related disorder is an inherited neuroendocrine disease characterised by cerebellar ataxia, chorea, cognitive impairment and hypogonadotropic hypogonadism. Most causative variants in patients with RNF216-related disorder influence the RBR domain or C-terminal extension of RNF216.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Neurogenetics Source Type: research