The 4H syndrome due to RNF216 mutation

Parkinsonism Relat Disord. 2015 Sep;21(9):1122-3. doi: 10.1016/j.parkreldis.2015.07.012. Epub 2015 Jul 18.

¹ Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, United Kingdom; Department of Neurology, University Medical Center Hamburg-Eppendorf (UKE), Hamburg, Germany. Electronic address: cganos@gmail.com.
² Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom; MRC Centre for Neuromuscular Diseases, University College London, London, United Kingdom.
³ Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
⁴ Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, United Kingdom.

No abstract available

Keywords: 4H syndrome; Cerebellar ataxia; Hypogonadotropic hypogonadism; RNF216.

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