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Ontwikkelingen in genetische diagnostiek van verstandelijke beperking

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Bijblijven

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Verstandelijke beperking is een van de belangrijkste redenen voor verwijzing naar de klinisch geneticus. In meer dan de helft van de gevallen is de oorzaak onbekend. De ontwikkelingen in de genetische diagnostiek hebben de afgelopen jaren een enorme vlucht genomen. Dit biedt veelbelovende mogelijkheden voor het ophelderen van onverklaarde verstandelijke beperking waarbij een genetische oorzaak wordt vermoed. Het ophelderen van genetische oorzaken van verstandelijke beperking is van groot belang voor de zorg aan, en counseling van patiënten en hun families. Kennis over onderliggende genetische en moleculaire defecten is tevens een eerste stap in de ontwikkeling van therapeutische interventies.

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Authors and Affiliations

  1. afdeling Antropogenetica, UMC St Radboud, Nijmegen, The Netherlands

    M. H. Willemsen &  T. Kleefstra

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  1. M. H. Willemsen
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  2. T. Kleefstra
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Arts-onderzoeker klinische genetica

Klinisch geneticus

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Willemsen, M.H., Kleefstra, T. Ontwikkelingen in genetische diagnostiek van verstandelijke beperking. Bijblijven 27, 42–54 (2011). https://doi.org/10.1007/s12414-011-0078-8

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