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 <em>RNF216</em> mutation. We performed whole-exome sequencing and filt...
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| Main Authors: | , |
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| Format: | Book |
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MDPI AG,
2016-06-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |