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Article

Clinical relevance and translational impact of reduced penetrance in genetic movement disorders

1 Jun 2022

Abstract excerpt

Reduced penetrance is an important but underreported aspect in monogenic diseases. It refers to the phenomenon that carriers of pathogenic variants do not manifest with an overt disease. Clinical expressivity, on the other hand, describes the degree to which certain disease characteristics are present. In this article, we discuss the implications of reduced penetrance on genetic testing and counseling, outline...

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Identifiers

PMID: 38835915
DOI: 10.1515/medgen-2022-2128

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