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Clinical relevance ...
Clinical relevance and translational impact of reduced penetrance in genetic movement disorders
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- Heinzel, Sebastian (författare)
- Christian Albrechts Univ Kiel, Dept Neurol, Kiel, Germany.
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- Mascalzoni, Deborah, 1973- (författare)
- Uppsala universitet,Centrum för forsknings- och bioetik,Univ Lubeck, Inst Biomed, Affiliated Inst, Eurac Res, Bolzano, Italy
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- Bäumer, Tobias (författare)
- Univ Lubeck, Inst Syst Motor Sci, Lubeck, Germany.
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- Berg, Daniela (författare)
- Christian Albrechts Univ Kiel, Dept Neurol, Kiel, Germany.
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- Kasten, Meike (författare)
- Univ Lubeck, Inst Neurogenet, Lubeck, Germany.;Univ Lubeck, Dept Psychiat & Psychotherapy, Lubeck, Germany.
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- Brüggemann, Norbert (författare)
- Univ Lubeck, Inst Neurogenet, Lubeck, Germany.;Univ Lubeck, Dept Neurol, Ctr Brain Behav & Metab, Lubeck, Germany.
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Christian Albrechts Univ Kiel, Dept Neurol, Kiel, Germany Centrum för forsknings- och bioetik (creator_code:org_t)
- 2022-08-12
- 2022
- Engelska.
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Ingår i: Medizinische Genetik. - : Walter de Gruyter. - 0936-5931 .- 1863-5490. ; 34:2, s. 151-156
- Relaterad länk:
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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 how penetrance can be estimated in rare diseases using large cohorts and review the ethical, legal and social implications of studying non-manifesting carriers of pathogenic mutations. We highlight the interplay between reduced penetrance and the prodromal phase of a neurodegenerative disorder through the example of monogenic Parkinson's disease and discuss the therapeutic implications.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- penetrance
- expressivity
- genetic counseling
- recall-by-genotype
- translational
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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