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Gepubliceerd in:

01-11-2011

Ontwikkelingen in genetische diagnostiek van verstandelijke beperking

Auteurs: Drs. M. H. Willemsen, dr. T. Kleefstra

Gepubliceerd in: Bijblijven | Uitgave 9/2011

Samenvatting

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.

vorige artikel Prenatale diagnostiek anno 2011

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Titel: Ontwikkelingen in genetische diagnostiek van verstandelijke beperking
Auteurs: Drs. M. H. Willemsen
dr. T. Kleefstra
Publicatiedatum: 01-11-2011
Uitgeverij: Bohn Stafleu van Loghum
Gepubliceerd in: Bijblijven / Uitgave 9/2011
Print ISSN: 0168-9428
Elektronisch ISSN: 1876-4916
DOI: https://doi.org/10.1007/s12414-011-0078-8

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