Pseudodominance in Friedreich Ataxia-Impact of High Prevalence of Carriers and Intrafamilial Clinical Variation.
Movement disorders clinical practice（2023）
Abstract
Clinicians should be aware of the possibility of pseudodominance when facing an apparent autosomal dominant pedigree, particularly in disorders with high frequency of carriers and variable expression. Otherwise, genetic diagnoses may be delayed.
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Key words
heterozygous carriers for recessive diseases,late‐onset Friedreich ataxia,pseudodominance
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