PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women
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DOI: 10.1212/nxg.0000000000000563
Abstract: Inherited retinal dystrophies (IRD) comprise a heterogeneous group of disorders that affect visual function. IRD occur in isolated forms or in association with systemic abnormalities.1 Over 300 disease-causing genes have been identified in IRD. read more here.
Keywords: complex linked; gene mutation; linked adult; causes complex ... See more keywords