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Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation
Gordon Holmes syndrome (GHS) is a distinct phenotype of autosomal recessive cerebellar ataxia, characterized by ataxia, dementia, reproductive defects and hypogonadism; it has been recently found to be associated with RNF216 mutation. We performed whole-exome sequencing and filtered the resulting no...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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PAGEPress Publications, Pavia, Italy
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935815/ https://www.ncbi.nlm.nih.gov/pubmed/27441066 http://dx.doi.org/10.4081/ni.2016.6444 |