Pseudodominance in Friedreich Ataxia—Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation
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DOI: 10.1002/mdc3.13694
Abstract: Friedreich ataxia (FA) is the most common form of autosomal recessive (AR) ataxia. It is a rare disease, but carriers are frequent (1/100). Pseudodominance in FA has seldomly been reported; it may pose additional challenges… read more here.
Keywords: high prevalence; impact high; friedreich ataxia; pseudodominance ... See more keywords