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Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
NEJM 368:1992-2003, Margolin, D.,et al, 2013
See this aricle in Pubmed

Article Abstract
The syndrome of hypogonadotropic hypogonadism, ataxia, and dementia can be caused by inactivating mutations in RNF216 or by the combination of mutations in RNF216 and OTUD4. These findings link disordered ubiquitination to neurodegeneration and reproductive dysfunction and highlight the power of whole-exome sequencing in combination with functional studies to unveil genetic interactions that cause disease.
 
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ataxia
ataxia,cerebellar
cerebellar atrophy,primary
cerebellar degeneration
degenerative diseases of CNS
dementia
gene mutation
hypogonadism
MRI,abnormal
neuroendocrinology
ubiquitination

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